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Education
| Appointments | Previous
Professional Experience | Honors
| Service | Publications
David C. Page
Director, Whitehead Institute for
Biomedical Research
Professor of Biology, Massachusetts Institute of Technology
Investigator, Howard Hughes Medical Institute
OFFICE:
Whitehead Institute
Nine Cambridge Center
Cambridge, MA 02142
617-258-5203 (phone)
617-258-5578 (FAX)
EDUCATION
Harvard Medical School and
Harvard-MIT Health Sciences and
Technology Program, Boston, Massachusetts
M.D. magna cum laude with Concentration in Genetics, 1984
Swarthmore College, Swarthmore,
Pennsylvania
B.A. with Highest Honors in Chemistry (minor in Biology), 1978
PRIMARY
FACULTY APPOINTMENTS
Whitehead Institute
for Biomedical Research
Director, 2005 - present
Interim Director, 2004 – 2005
Associate Director, 2002 – 2004
Member, 1993 – 2002
Associate Member, 1988 – 1993
Whitehead Fellow, 1984 - 1988
Massachusetts Institute of
Technology, Department of Biology
Assistant Professor, 1988 - 1992
Associate Professor, 1992 - 1997
Professor, 1997 - present
Howard Hughes Medical Institute
Assistant Investigator, 1990 - 1996
Associate Investigator, 1997 - 2000
Investigator, 2000 - present
OTHER APPOINTMENTS
Harvard University-MIT Division of Health Sciences and Technology
Adjunct Faculty, 1989 - present
Broad Institute
Associate Member, 2004 – present
PREVIOUS
PROFESSIONAL EXPERIENCE
Chromatin structure laboratory
of Dr. Robert T. Simpson, National Institutes of Health, Bethesda, Maryland
Undergraduate student, 1977 - 1978
Human genetics laboratory
of Dr. Ray White, Dept. of Microbiology, Univ. of Massachusetts Medical
School, Worcester
Visiting student, 1979
Genetics laboratory of Dr. David Botstein, Dept. of Biology,
MIT
Visiting student, 1981 - 1983
Postdoctoral associate, 1984
HONORS
2007 Capital Science Lecturer, Carnegie
Institution of Washington
Keynote Lecturer, North American Testis Workshop
2006 Rachford Lecturer, University of
Cincinnati
Samuel Pruzansky Memorial Lecturer, American
College of Medical Genetics Annual Meeting
R. G. Williams Lecturer, University of Pennsylvania
Charles Edward Holt Memorial Lecturer, Massachusetts
Institute of Technology
2004 Sadler Lecturer, National Institute
of Child Health and Human Development
Keynote Lecturer, Society for the Study of Reproduction
Annual Meeting
2005 Keynote Lecturer, American Society
of Andrology Annual Meeting
National Academy of Sciences
Severo Ochoa Lecturer, New York University
2003 Keynote Lecturer, Gordon Conference
on “Fertilization & Activation of Development”
Paul G. McDonough Lecturer, Medical College
of Georgia
Keynote Lecturer, European Academy of Andrology
International Symposium
Spinoza Professor, University of Amsterdam
Curt Stern Award, American Society of Human Genetics
for outstanding scientific achievement in human genetics
Top 10 Breakthroughs of the Year, Science editorial
board for sequencing the human Y chromosome
2002 Keynote Lecturer, Serono Symposia
International Conference on "ICSI: 10 Years After the First Birth"
President's Guest Lecturer, American Society
for Reproductive Medicine
Earl P. Charlton Lecturer, Tufts University
School of Medicine
2001 Edward H. Birkenmeier Lecturer, Jackson
Laboratory
Holiday Lecturer (with Barbara Meyer), Howard
Hughes Medical Institute
2000 M.C. Chang Award, Worcester Foundation
and University of Massachusetts Medical School
for contributions in genetics and reproductive biology
1999 John D. Crawford Lecturer, Harvard
Medical School
James M. Cuozzo Memorial Lecturer, University
of Pennsylvania
1998 Serono Lecturer, International Federation
of Fertility Societies and American Society for Reproductive Medicine
1997 Francis Amory Prize, American Academy
of Arts and Sciences for genetic studies of mammalian sex determination;
prize shared with Peter Goodfellow and Robin Lovell-Badge
1992 Bruce Stewart Memorial Lecturer,
American Fertility Society
Top 10 Scientific Advances of the Year, Science
editorial board
for mapping a human chromosome
1990 Serono Award, American Society of
Andrology for advances in reproductive biology
1989 Walter J. Johnson Prize, Journal
of Molecular Biology editorial board for contributions in molecular
biology
Honorary Doctorate, Swarthmore College
Searle Scholar Award
1987 Dr. Janet Miller Memorial Lecturer,
University of Western Ontario, Canada
1986 MacArthur Prize Fellowship
1984 Leon
Reznick Award for excellence in research, Harvard Medical School
SERVICE
National Advisory
Council for Human Genome Research, National Institutes of Health, 2007
– present
Editorial Board, Proceedings of the National
Academy of Sciences, 2006 – present
Executive Committee, Department of Biology,
Massachusetts Institute of Technology, 2001 - present
Editor (with Matt Scott), Current
Opinion in Genetics and Development, 2000 - present
Associate Editor (with Eric Lander
and Richard Lifton), Annual Review of Human Genetics and Genomics, 1999
– present
Committee to Select Genome Sequencing
Targets, National Human Genome Research Institute, 2003 - present
BAC Resource Steering Panel, National Human Genome Research Institute,
2001 - present
Chairperson, Whitehead Task Force on Genetics and Public Policy, 1994
– 2003
(In this capacity I have organized two major national symposia on genetics
and society. I have organized educational efforts on behalf of the executive,
legislative, and judicial branches of the Massachusetts government,
the American College of Trial Lawyers, the federal judiciary, health
care advocates, business leaders, the insurance industry, and other
groups.)
Chairperson, ENCODE (ENCyclopedia Of DNA Elements) Review Panel, National
Institutes of Health, July 2003
Chairperson (with Ruth Lehmann),
Cold Spring Harbor Meeting on Germ Cells, 2002
ELSI Advisory Committee, National
Institutes of Health, 2000 - 2002
(Oversight of programs addressing the ethical, legal and social implications
of the human genome project)
Associate Editor, Genomics, 1997
- 2000
Associate Director, Whitehead/MIT Center for Genome Research, 1992 -
1999
Chairperson, Genome Research Review
Committee, National Institutes of Health, 1998 - 1999; Member, 1994
- 1998
Chairperson, Human Polymorphism Review
Panel, National Institutes of Health, July 1998
Massachusetts Legislature's Special
Committee on Genetic Information Policy, 1996 - 1998
Turner's Syndrome Society of the
United States
Medical Advisory Board, 1993 - 2000
Board of Directors, 1992 - 1994
Scientific Advisory Panel, Stanford University Genome Center, 1995 -
1996
Scientific Advisory Panel, University of Texas Southwestern Medical
Center Genome Center, 1995 - 1996
Communicating Editor, Human Mutation, 1991 - 1998
PUBLICATIONS
Papers in Refereed Journals
1. Stein A, Page D (1980) Core histone associations
in solutions of high salt. An osmotic pressure study. J Biol Chem 255:
3629-37
2. Page D, de Martinville B, Barker D, Wyman A, White R, Francke U,
Botstein D (1982) Single-copy sequence hybridizes to polymorphic and
homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S
A 79: 5352-6
3. de la Chapelle A, Tippett PA, Wetterstrand G, Page D (1984) Genetic
evidence of X-Y interchange in a human XX male. Nature 307: 170-1
4. Page DC, de la Chapelle A (1984) The parental origin of X chromosomes
in XX males determined using restriction fragment length polymorphisms.
Am J Hum Genet 36: 565-75
5. Page DC, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition
from the X-chromosome long arm to the Y-chromosome short arm during
human evolution. Nature 311: 119-23
6. Putney S, Herlihy W, Royal N, Pang H, Aposhian HV, Pickering L, Belagaje
R, Biemann K, Page D, Kuby S, et al. (1984) Rabbit muscle creatine phosphokinase.
cDNA cloning, primary structure and detection of human homologues. J
Biol Chem 259: 14317-20
7. Page DC, de la Chapelle A, Weissenbach J (1985) Chromosome Y-specific
DNA in related human XX males. Nature 315: 224-6
8. Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Botstein
D, de la Chapelle A, Weissenbach J (1986) A deletion map of the human
Y chromosome based on DNA hybridization. Am J Hum Genet 38: 109-24
9. de la Chapelle A, Page DC, Brown L, Kaski U, Parvinen T, Tippett
PA (1986) The origin of 45,X males. Am J Hum Genet 38: 330-40
10. Andersson M, Page DC, de la Chapelle A (1986) Chromosome Y-specific
DNA is transferred to the short arm of X chromosome in human XX males.
Science 233: 786-8
11. Brissenden JE, Page DC, de Martinville B, Trowsdale J, Botstein
D, Francke U (1986) Regional assignments of three polymorphic DNA segments
on human chromosome 15. Genet Epidemiol 3: 231-9
12. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J,
Thuline H, Page DC, Fellous M (1986) Small deletions of the short arm
of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A 83: 7841-4
13. Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon
RA, Page DC (1986) Molecular detection of a translocation (Y;15) in
a 45,X male. Hum Genet 74: 372-7
14. Moore GE, Ivens A, Chambers J, Farrall M, Williamson R, Page DC,
Bjornsson A, Arnason A, Jensson O (1987) Linkage of an X-chromosome
cleft palate gene. Nature 326: 91-2
15. Simpson E, Chandler P, Goulmy E, Disteche CM, Ferguson-Smith MA,
Page DC (1987) Separation of the genetic loci for the H-Y antigen and
for testis determination on human Y chromosome. Nature 326: 876-8
16. Gal A, Weber B, Neri G, Serra A, Muller U, Schempp W, Page DC (1987)
A 45,X male with Y-specific DNA translocated onto chromosome 15. Am
J Hum Genet 40: 477-88
17. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC
(1987) Familial premature ovarian failure due to an interstitial deletion
of the long arm of the X chromosome. N Engl J Med 317: 125-31
18. Page DC, Brown LG, de la Chapelle A (1987) Exchange of terminal
portions of X- and Y-chromosomal short arms in human XX males. Nature
328: 437-40
19. Bernstein R, Rosendorff J, Ramsay M, Pinto MR, Page DC (1987) A
unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic
and molecular studies. Am J Hum Genet 41: 145-56
20. Anneren G, Andersson M, Page DC, Brown LG, Berg M, Lackgren G, Gustavson
KH, de la Chapelle A (1987) An XXX male resulting from paternal X-Y
interchange and maternal X-X nondisjunction. Am J Hum Genet 41: 594-604
21. Rouyer F, Simmler MC, Page DC, Weissenbach J (1987) A sex chromosome
rearrangement in a human XX male caused by Alu-Alu recombination. Cell
51: 417-25
22. Page DC, Bieker K, Brown LG, Hinton S, Leppert M, Lalouel JM, Lathrop
M, Nystrom-Lahti M, de la Chapelle A, White R (1987) Linkage, physical
mapping, and DNA sequence analysis of pseudoautosomal loci on the human
X and Y chromosomes. Genomics 1: 243-56
23. Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, Pollack J, McGillivray
B, de la Chapelle A, Brown LG (1987) The sex-determining region of the
human Y chromosome encodes a finger protein. Cell 51: 1091-104
24. Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC (1988) Regional
localization of polymorphic DNA loci on the proximal long arm of the
X chromosome using deletions associated with choroideremia. Hum Genet
78: 156-60
25. Andersson M, Page DC, Brown LG, Elfving K, de la Chapelle A (1988)
Characterization of a (Y;4) translocation by DNA hybridization. Hum
Genet 78: 377-81
26. Andersson M, Page DC, Pettay D, Subrt I, Turleau C, de Grouchy J,
de la Chapelle A (1988) Y;autosome translocations and mosaicism in the
aetiology of 45,X maleness: assignment of fertility factor to distal
Yq11. Hum Genet 79: 2-7
27. Ramsay M, Bernstein R, Zwane E, Page DC, Jenkins T (1988) XX true
hermaphroditism in southern African blacks: an enigma of primary sexual
differentiation. Am J Hum Genet 43: 4-13
28. Phelan MC, Prouty LA, Stevenson RE, Howard-Peebles PN, Page DC,
Schwartz CE (1988) The parental origin and mechanism of formation of
three dicentric X chromosomes. Hum Genet 80: 81-4
29. Kwan SP, Sandkuyl LA, Blaese M, Kunkel LM, Bruns G, Parmley R, Skarshaug
S, Page DC, Ott J, Rosen FS (1988) Genetic mapping of the Wiskott-Aldrich
syndrome with two highly-linked polymorphic DNA markers. Genomics 3:
39-43
30. Munke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel
BS (1988) Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic
male. Hum Genet 80: 219-23
31. Sinclair AH, Foster JW, Spencer JA, Page DC, Palmer M, Goodfellow
PN, Graves JA (1988) Sequences homologous to ZFY, a candidate human
sex-determining gene, are autosomal in marsupials. Nature 336: 780-3
32. Mardon G, Mosher R, Disteche CM, Nishioka Y, McLaren A, Page DC
(1989) Duplication, deletion, and polymorphism in the sex-determining
region of the mouse Y chromosome. Science 243: 78-80
33. Knowlton RG, Nelson CA, Brown VA, Page DC, Donis-Keller H (1989)
An extremely polymorphic locus on the short arm of the human X chromosome
with homology to the long arm of the Y chromosome. Nucleic Acids Res
17: 423-37
34. Mardon G, Page DC (1989) The sex-determining region of the mouse
Y chromosome encodes a protein with a highly acidic domain and 13 zinc
fingers. Cell 56: 765-70
35. Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC
(1989) ZFX has a gene structure similar to ZFY, the putative human sex
determinant, and escapes X inactivation. Cell 57: 1247-58
36. Ma NS, Page DC, Harris TS (1989) Molecular evidence of Y-autosomal
translocations in owl monkeys. J Hered 80: 259-63
37. Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM,
Zinn AB, Disteche CM (1989) Molecular analysis of 46,XY females and
regional assignment of a new Y-chromosome-specific probe. Hum Genet
83: 88-92
38. Schneider-Gadicke A, Beer-Romero P, Brown LG, Mardon G, Luoh SW,
Page DC (1989) Putative transcription activator with alternative isoforms
encoded by human ZFX gene. Nature 342: 708-11
39. Blagowidow N, Page DC, Huff D, Mennuti MT (1989) Ullrich-Turner
syndrome in an XY female fetus with deletion of the sex-determining
portion of the Y chromosome. Am J Med Genet 34: 159-62
40. Sankila EM, Lehner T, Eriksson AW, Forsius H, Karna J, Page D, Ott
J, de la Chapelle A (1989) Haplotype and multipoint linkage analysis
in Finnish choroideremia families. Hum Genet 84: 66-70
41. Mardon G, Luoh SW, Simpson EM, Gill G, Brown LG, Page DC (1990)
Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating
domain and 13 zinc fingers. Mol Cell Biol 10: 681-8
42. DiLella AG, Page DC, Smith RG (1990) A bird zinc-finger protein
closely related to ZFY. New Biol 2: 49-56
43. Mohandas TK, Stern HJ, Meeker CA, Passage MB, Muller U, Page DC,
Yen PH, Shapiro LJ (1990) Steroid sulfatase gene in XX males. Am J Hum
Genet 46: 369-76
44. Page DC, Disteche CM, Simpson EM, de la Chapelle A, Andersson M,
Alitalo T, Brown LG, Green P, Akots G (1990) Chromosomal localization
of ZFX--a human gene that escapes X inactivation--and its murine homologs.
Genomics 7: 37-46
45. Keer JT, Hamvas RM, Brockdorff N, Page D, Rastan S, Brown SD (1990)
Genetic mapping in the region of the mouse X-inactivation center. Genomics
7: 566-72
46. Fisher EM, Alitalo T, Luoh SW, de la Chapelle A, Page DC (1990)
Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq
homology. Genomics 7: 625-8
47. Page DC, Fisher EM, McGillivray B, Brown LG (1990) Additional deletion
in sex-determining region of human Y chromosome resolves paradox of
X,t(Y;22) female. Nature 346: 279-81
48. Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence
JB, Willard HF, Bieber FR, Page DC (1990) Homologous ribosomal protein
genes on the human X and Y chromosomes: escape from X inactivation and
possible implications for Turner syndrome. Cell 63: 1205-18
49. Adler DA, Bressler SL, Chapman VM, Page DC, Disteche CM (1991) Inactivation
of the Zfx gene on the mouse X chromosome. Proc Natl Acad Sci U S A
88: 4592-5
50. Hassold TJ, Sherman SL, Pettay D, Page DC, Jacobs PA (1991) XY chromosome
nondisjunction in man is associated with diminished recombination in
the pseudoautosomal region. Am J Hum Genet 49: 253-60
51. Simpson EM, Page DC (1991) An interstitial deletion in mouse Y chromosomal
DNA created a transcribed Zfy fusion gene. Genomics 11: 601-8
52. Zinn AR, Bressler SL, Beer-Romero P, Adler DA, Chapman VM, Page
DC, Disteche CM (1991) Inactivation of the Rps4 gene on the mouse X
chromosome. Genomics 11: 1097-101
53. Hamvas RM, Zinn A, Keer JT, Fisher EM, Beer-Romero P, Brown SD,
Page DC (1992) Rps4 maps near the inactivation center on the mouse X
chromosome. Genomics 12: 363-7
54. Lindgren V, Chen CP, Bryke CR, Lichter P, Page DC, Yang-Feng TL
(1992) Cytogenetic and molecular characterization of marker chromosomes
in patients with mosaic 45,X karyotypes. Hum Genet 88: 393-8
55. Cantrell MA, Bogan, J.S., Simpson, E., Bicknell, J.N., Goulmy, E.,
Chandler, P., Pagon, R.A., Walker, D.C., Thuline, H.C., Graham, J.M.,
de la Chapelle, A., Page, D.C., Disteche, C.M. (1992) Deletion mapping
of the H-Y antigen to the long arm of the human Y chromosome. Genomics
13: 1255-1260
56. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS,
Page DC (1992) The human Y chromosome: a 43-interval map based on naturally
occurring deletions. Science 258: 52-9
57. Foote S, Vollrath D, Hilton A, Page DC (1992) The human Y chromosome:
overlapping DNA clones spanning the euchromatic region. Science 258:
60-6
58. Zinn AR, Page DC, Fisher EM (1993) Turner syndrome: the case of
the missing sex chromosome. Trends Genet 9: 90-3
59. Watanabe M, Zinn AR, Page DC, Nishimoto T (1993) Functional equivalence
of human X- and Y-encoded isoforms of ribosomal protein S4 consistent
with a role in Turner syndrome. Nat Genet 4: 268-71
60. Behlke MA, Bogan JS, Beer-Romero P, Page DC (1993) Evidence that
the SRY protein is encoded by a single exon on the human Y chromosome.
Genomics 17: 736-9
61. Schmitt K, Vollrath D, Foote S, Fisher EM, Page DC, Arnheim N (1993)
Four PCR-based polymorphisms in the pseudoautosomal region of the human
X and Y chromosomes. Hum Mol Genet 2: 1978
62. Page DC (1994) Y chromosome sequences in Turner's syndrome and risk
of gonadoblastoma or virilisation. Lancet 343: 240
63. Luoh SW, Page DC (1994) The structure of the Zfx gene on the mouse
X chromosome. Genomics 19: 310-9
64. Bogan JS, Page DC (1994) Ovary? Testis?--A mammalian dilemma. Cell
76: 603-7
65. Zinn AR, Alagappan RK, Brown LG, Wool I, Page DC (1994) Structure
and function of ribosomal protein S4 genes on the human and mouse sex
chromosomes. Mol Cell Biol 14: 2485-92
66. Dietrich WF, Miller JC, Steen RG, Merchant M, Damron D, Nahf R,
Gross A, Joyce DC, Wessel M, Dredge RD, et al. (1994) A genetic map
of the mouse with 4,006 simple sequence length polymorphisms. Nat Genet
7: 220-45
67. Zambrowicz BP, Zimmermann JW, Harendza CJ, Simpson EM, Page DC,
Brinster RL, Palmiter RD (1994) Expression of a mouse Zfy-1/lacZ transgene
in the somatic cells of the embryonic gonad and germ cells of the adult
testis. Development 120: 1549-59
68. Schmitt K, Lazzeroni LC, Foote S, Vollrath D, Fisher EM, Goradia
TM, Lange K, Page DC, Arnheim N (1994) Multipoint linkage map of the
human pseudoautosomal region, based on single-sperm typing: do double
crossovers occur during male meiosis? Am J Hum Genet 55: 423-30
69. Rosenfeld RG, Tesch, L., Rodriguez-Rigau, L.J., McCauley, E., Albertsson-Wikland
K., Asch, R., Cara, J., Conte, F., Hall, J.G., Lippe, B., Nagel, T.C.,
Neely, E.K., Page, D.C., Ranke, M., Saenger, P., Watkins, J., Wilson,
D.M. (1994) Recommendations for diagnosis, treatment and management
of individuals with Turner Syndrome. Endocrinologist 4: 351-358
70. Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC (1994) Xq-Yq
interchange resulting in supernormal X-linked gene expression in severely
retarded males with 46,XYq- karyotype. Nat Genet 8: 243-50
71. Zambrowicz BP, Findley SD, Simpson EM, Page DC, Palmiter RD (1994)
Characterization of the murine Zfy1 and Zfy2 promoters. Genomics 24:
406-8
72. Polakiewicz RD, Munroe DJ, Sait SN, Tycowski KT, Nowak NJ, Shows
TB, Housman DE, Page DC (1995) Mapping of ribosomal protein S3 and internally
nested snoRNA U15A gene to human chromosome 11q13.3-q13.5. Genomics
25: 577-80
73. Salo P, Kaariainen H, Page DC, de la Chapelle A (1995) Deletion
mapping of stature determinants on the long arm of the Y chromosome.
Hum Genet 95: 283-6
74. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen
S, Jaffe T, Straus D, Hovatta O, et al. (1995) Diverse spermatogenic
defects in humans caused by Y chromosome deletions encompassing a novel
RNA-binding protein gene. Nat Genet 10: 383-93
75. Salo P, Kaariainen H, Petrovic V, Peltomaki P, Page DC, de la Chapelle
A (1995) Molecular mapping of the putative gonadoblastoma locus on the
Y chromosome. Genes Chromosomes Cancer 14: 210-4
76. Luoh SW, Jegalian K, Lee A, Chen EY, Ridley A, Page DC (1995) CpG
islands in human ZFX and ZFY and mouse Zfx genes: sequence similarities
and methylation differences. Genomics 29: 353-63
77. Callen DF, Lane SA, Kozman H, Kremmidiotis G, Whitmore SA, Lowenstein
M, Doggett NA, Kenmochi N, Page DC, Maglott DR, et al. (1995) Integration
of transcript and genetic maps of chromosome 16 at near-1-Mb resolution:
demonstration of a "hot spot" for recombination at 16p12.
Genomics 29: 503-11
78. Chumakov I, M., Rigault, P., Le Gall, I., Ballanne-Chantelot, C.,
Billault, A., Guillou, S., Soularue, P., Guasconi, G., Poullier, E.,
Gros, I., Belova, M., Sambucy, J., Susini, L., Gerby, P., Glibert, F.,
Beaufils, S., Bui, H., Massart, C., De Tand, M., Dukasz, F., Lecoulant,
S., Ougen, P., Perrot, V., Saumier, M., Soravito, C., Bahouayila, R.,
Cohen-Akenin, A., Barillot, E., Bertrant, S., Codani, J., Caterina,
D., Georges, Il., Lacroix, B., Lucotte, G., Sahbatou, M., Schmit, C.,
Sangouard, M., Tubacher, E., Dib, C., Faure, S., Fizames, C., Gyapay,
G., Millasseau, P., Nguyen, S., Muselet, D., Vignal, A., Morrisette,
J., Menninger, J., Lieman, J., Desai, T., Banks, A., Bray-Ward, P.,
Ward, D., Hudson, T., Gerety, S., Foote, S., Stein, L., Page, D.C.,
Lander, E.S., Weissenbach, J., Le Paslier, D. and Cohen, D. (1995) A
YAC contig map of the human genome. Nature 377: S175-S298
79. Tsuchiya K, Reijo R, Page DC, Disteche CM (1995) Gonadoblastoma:
molecular definition of the susceptibility region on the Y chromosome.
Am J Hum Genet 57: 1400-7
80. Ried K, Mertz A, Nagaraja R, Trusgnich M, Riley JH, Anand R, Lehrach
H, Page D, Ellison JW, Rappold G (1995) Characterization of a YAC contig
spanning the pseudoautosomal region. Genomics 29: 787-92
81. Hudson TJ, Stein, L.D., Gerety, S.S., Ma, J., Castle, A.B., Silva,
J., Slonim, D.K., Baptista, R., Kruglyak, L., Xu, S.-H., Hu, X., Colbert,
A.M.E., Rosenberg, C., Reeve-Daly, M.P., Rozen, S., Hui, L., Wu, X.,
Vestergaard, C., Wilson, K.M., Bae, J.S., Maitra, S., Ganiatsas, S.,
Evans, C.A., DeAngelis, M.M., Ingalls, K.A., Nahf, R.W., Horton, KJr.,
L.T., Anderson, M.O., Collymore, A.J., Ye, W., Kouyoumjian, V., Zemsteva,
I.S., Tam, J., Devine, R., Courtney, D.F., Renaud, M.T., Mguyen, H.,
O'Connor, T.J., Fizames, C., Faure, S., Gyapay, G., Dib, C., Morissette,
J., Orlin, J.B., Birren, B.W., Goodman, N., Weissenbach, J., Hawkins,
T.L., Foote, S., Page, D.C., Lander, E.S. (1995) An STS-based map of
the human genome. Science 270: 1945-1954
82. Letterie GS, Page DC (1995) Dysgerminoma and gonadal dysgenesis
in a 46,XX female with no evidence of Y chromosomal DNA. Gynecol Oncol
57: 423-5
83. Dietrich WF, Miller J, Steen R, Merchant MA, Damron-Boles D, Husain
Z, Dredge R, Daly MJ, Ingalls KA, O'Connor TJ (1996) A comprehensive
genetic map of the mouse genome. Nature 380: 149-52
84. Reijo R, Alagappan RK, Patrizio P, Page DC (1996) Severe oligozoospermia
resulting from deletions of azoospermia factor gene on Y chromosome.
Lancet 347: 1290-3
85. Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM,
Page DC (1996) Mouse autosomal homolog of DAZ, a candidate male sterility
gene in humans, is expressed in male germ cells before and after puberty.
Genomics 35: 346-52
86. Eicher EM, Washburn LL, Schork NJ, Lee BK, Shown EP, Xu X, Dredge
RD, Pringle MJ, Page DC (1996) Sex-determining genes on mouse autosomes
identified by linkage analysis of C57BL/6J-YPOS sex reversal. Nat Genet
14: 206-9
87. Schuler GD, Boguski, M.S., Stewart, E.A., Stein, L.D., Gyapay, G.,
Rice, K., White, R.E., Rodriguez-Tome, P., Aggarwal, A., Bajorek, E.,
Bentolila, S., Birren, B.B., Butler, A., Castle, A.B., Chiannilkulchai,
N., Chu, A., Clee, C., Cowles, S., Day, P.J.R., Dibling, T., Drouot,
N., Dunham, I., Duprat, S., East, C., Edwards, C., Fan, J.-B., Fang,
N., Fizames, C., Garrett, C., Green, L., Hadley, D., Harris, M., Harrison,
P., Brady, S., Hicks, A., Holloway, E., Hui, L., Hussaine, S., Louis-Dit-Sully,
C., Ma, J., MacGilvery, A., Mader, C., Maratukulam, A., Matise, T.C.,
McKusick, K.B., Morissette, J., Mungall, A., Muselet, D., Nusbaum, H.C.,
Page, D.C., Peck, A., Perkins, S., Piercy, M., Qin, F., Quackenbush,
J., Ranby, S., Reif, T., Rozen, S., Sanders, C., She, X., Silva, J.,
Slonim, D.K., Soderlund, C., Sun, W.-L., Tabar, P., Thangarajah, T.,
Vega-Czarny, N., Vollrath, D., Voyticky, S., Wilmer, T., Wu, X., Adams,
M.D., Auffray, C., Berry R., Brandon, R., Dehejia, A., Goodfellow, P.N.,
Houlgatte, R., Hudson Jr., J.R., Ide, S.E., Iorio, K.R., Lee, W.Y.,
Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Phillips, C., Polymeropoulos,
M.H., Sandusky, M., Schmitt, K., Sikela, J.M., Swanson, K., Torres,
R., Venter, J.C., Walter, N.A.R., Beckmann, J.S., Weissenbach, J., Myers,
R.M., Cox, D.R., James, M.R., Bentley, D., Deloukas, P., Lander, E.S.,
Hudson, T.J. (1996) A gene map of the human genome. Science 274: 540-546
88. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve
MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (1996) The DAZ
gene cluster on the human Y chromosome arose from an autosomal gene
that was transposed, repeatedly amplified and pruned. Nat Genet 14:
292-9
89. Menke DB, Mutter GL, Page DC (1997) Expression of DAZ, an azoospermia
factor candidate, in human spermatogonia. Am J Hum Genet 60: 237-41
90. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, Oates
RD (1997) Azoospermic men with deletion of the DAZ gene cluster are
capable of completing spermatogenesis: fertilization, normal embryonic
development and pregnancy occur when retrieved testicular spermatozoa
are used for intracytoplasmic sperm injection. Hum Reprod 12: 503-8
91. Mahaffey CL, Bayleran JK, Yeh GY, Lee TC, Page DC, Simpson EM (1997)
Intron/exon structure confirms that mouse Zfy1 and Zfy2 are members
of the ZFY gene family. Genomics 41: 123-7
92. Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch
R, Page DC (1997) Zfx mutation results in small animal size and reduced
germ cell number in male and female mice. Development 124: 2275-84
93. Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D, Petit
C, Rappold GA (1997) Abnormal XY interchange between a novel isolated
protein kinase gene, PRKY, and its homologue, PRKX, accounts for one
third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 6: 1985-9
94. Lahn BT, Page DC (1997) Functional coherence of the human Y chromosome.
Science 278: 675-80
95. Schwartz A, Chan DC, Brown LG, Alagappan R, Pettay D, Disteche C,
McGillivray B, de la Chapelle A, Page DC (1998) Reconstructing hominid
Y evolution: X-homologous block, created by X-Y transposition, was disrupted
by Yp inversion through LINE-LINE recombination. Hum Mol Genet 7: 1-11
96. Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
Tanaka T, Page DC (1998) A map of 75 human ribosomal protein genes.
Genome Res 8: 509-23
97. Seligman J, Page DC (1998) The Dazh gene is expressed in male and
female embryonic gonads before germ cell sex differentiation. Biochem
Biophys Res Commun 245: 878-82
98. Jegalian K, Page DC (1998) A proposed path by which genes common
to mammalian X and Y chromosomes evolve to become X inactivated. Nature
394: 776-80
99. Silber SJ, Alagappan R, Brown LG, Page DC (1998) Y chromosome deletions
in azoospermic and severely oligozoospermic men undergoing intracytoplasmic
sperm injection after testicular sperm extraction. Hum Reprod 13: 3332-7
100. Lahn BT, Page DC (1999) Retroposition of autosomal mRNA yielded
testis-specific gene family on human Y chromosome. Nat Genet 21: 429-33
101. Raymond CS, Parker ED, Kettlewell JR, Brown LG, Page DC, Kusz K,
Jaruzelska J, Reinberg Y, Flejter WL, Bardwell VJ, Hirsch B, Zarkower
D (1999) A region of human chromosome 9p required for testis development
contains two genes related to known sexual regulators. Hum Mol Genet
8: 989-96
102. Page DC, Silber S, Brown LG (1999) Men with infertility caused
by AZFc deletion can produce sons by intracytoplasmic sperm injection,
but are likely to transmit the deletion and infertility. Hum Reprod
14: 1722-6
103. Gromoll J, Weinbauer GF, Skaletsky H, Schlatt S, Rocchietti-March
M, Page DC, Nieschlag E (1999) The Old World monkey DAZ (Deleted in
AZoospermia) gene yields insights into the evolution of the DAZ gene
cluster on the human Y chromosome. Hum Mol Genet 8: 2017-24
104. Lahn BT, Page DC (1999) Four evolutionary strata on the human X
chromosome. Science 286: 964-7
105. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates
R, Page DC (1999) An azoospermic man with a de novo point mutation in
the Y-chromosomal gene USP9Y. Nat Genet 23: 429-32
106. Lahn BT, Page DC (2000) A human sex-chromosomal gene family expressed
in male germ cells and encoding variably charged proteins. Hum Mol Genet
9: 311-9
107. Rocchietti-March M, Weinbauer GF, Page DC, Nieschlag E, Gromoll
J (2000) Dazl protein expression in adult rat testis is up-regulated
at meiosis and not hormonally regulated. Int J Androl 23: 51-6
108. Warren EH, Gavin MA, Simpson E, Chandler P, Page DC, Disteche C,
Stankey KA, Greenberg PD, Riddell SR (2000) The human UTY gene encodes
a novel HLA-B8-restricted H-Y antigen. J Immunol 164: 2807-14
109. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown
LG, Ma P, Chen E, Hoovers JM, Page DC (2000) Four DAZ genes in two clusters
found in the AZFc region of the human Y chromosome. Genomics 67: 256-67
110. Bohossian HB, Skaletsky H, Page DC (2000) Unexpectedly similar
rates of nucleotide substitution found in male and female hominids.
Nature 406: 622-5
111. Giacalone J, Delobette S, Gibaja V, Ni L, Skiadas Y, Qi R, Edington
J, Lai Z, Gebauer D, Zhao H, Anantharaman T, Mishra B, Brown LG, Saxena
R, Page DC, Schwartz DC (2000) Optical mapping of BAC clones from the
human Y chromosome DAZ locus. Genome Res 10: 1421-9
112. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R, Page
DC (2000) Deletion of azoospermia factor a (AZFa) region of human Y
chromosome caused by recombination between HERV15 proviruses. Hum Mol
Genet 9: 2291-6
113. Crosby AH, Ion, A., Kremer, H., Kenmochi, N., van Reen, M., Fenske,
C., van der Burgt, I., Brunncer, H.G., Montgomery, K., Kucherlapati,
R.S., Patton, M.A., Page, D.C., Mariman, E., Jeffrey, S. (2000) The
chromosomal localisation and screening of candidate genes for a role
in the pathogenesis of Noonan Syndrome. J. Med. Genet. 37: 884-886
114. Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H,
Page DC (2000) DAZ family proteins exist throughout male germ cell development
and transit from nucleus to cytoplasm at meiosis in humans and mice.
Biol Reprod 63: 1490-6
115. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG,
Rosenberg M, McPherson JD, Wylie K, Sekhon M, Kucaba TA, Waterston RH,
Page DC (2001) A physical map of the human Y chromosome. Nature 409:
943-5
116. Wang PJ, McCarrey JR, Yang F, Page DC (2001) An abundance of X-linked
genes expressed in spermatogonia. Nat Genet 27: 422-6
117. Yang J, Bogerd, H.P., Wang, P.J., Page, D.C., Cullen, B.R. (2001)
Two closely related human nuclear RNA export factors utilize entirely
distinct export pathways. Mol. Cell. 8: 397-406
118. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS,
Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001)
The AZFc region of the Y chromosome features massive palindromes and
uniform recurrent deletions in infertile men. Nat Genet 29: 279-86
119. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates
RD, Page DC, Rozen S (2002) Recombination between palindromes P5 and
P1 on the human Y chromosome causes massive deletions and spermatogenic
failure. Am J Hum Genet 71: 906-22
120. Wang PJ, Page DC (2002) Functional substitution for TAF(II)250
by a retroposed homolog that is expressed in human spermatogenesis.
Hum Mol Genet 11: 2341-6
121. Menke DB, Page DC (2002) Sexually dimorphic gene expression in
the developing mouse gonad. Gene Expr Patterns 2: 359-67
122. Oates RD, Silber S, Brown LG, Page DC (2002) Clinical characterization
of 42 oligospermic or azoospermic men with microdeletion of the AZFc
region of the Y chromosome, and of 18 children conceived via ICSI. Hum
Reprod 17: 2813-24
123. Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD, Page
DC (2002) Previously uncharacterized histone acetyltransferases implicated
in mammalian spermatogenesis. Proc Natl Acad Sci U S A 99: 8707-12
124. Phelan MC, Rogers RC, Crawford EC, Brown LG, Page DC (2003) Velocardiofacial
syndrome in an unexplained XX male. Am J Med Genet 116A: 77-9
125. Bortvin A, Eggan K, Skaletsky H, Akutsu H, Berry DL, Yanagimachi
R, Page DC, Jaenisch R (2003) Incomplete reactivation of Oct4-related
genes in mouse embryos cloned from somatic nuclei. Development 130:
1673-80
126. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty
A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF,
Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash
W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz
B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S,
Page DC (2003) The male-specific region of the human Y chromosome is
a mosaic of discrete sequence classes. Nature 423: 825-37
127. Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, Waterston
RH, Wilson RK, Page DC (2003) Abundant gene conversion between arms
of palindromes in human and ape Y chromosomes. Nature 423: 873-6
128. Tomasi PA, Oates R, Brown L, Delitala G, Page DC (2003) The pituitary-testicular
axis in Klinefelter's syndrome and in oligo-azoospermic patients with
and without deletions of the Y chromosome long arm. Clin Endocrinol
(Oxf) 59: 214-22
129. Menke DB, Koubova J, Page DC (2003) Sexual differentiation of germ
cells in XX mouse gonads occurs in an anterior-to-posterior wave. Dev
Biol 262: 303-12
130. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova
T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen
F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the
human Y chromosome persists through balance between recurrent mutation
and haploid selection. Nat Genet 35: 247-51
131. Page, DC (2003) Curt Stern Award Address. On low expectations exceeded;
or, the genomic salvation of the Y chromosome. Am J Hum Genet 74: 399-402
132. Repping S, van Daalen KM, Korver CM, Brown
LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page
DC, Rozen S (2004) A family of human Y chromosomes has dispersed throughout
northern Eurasia despite a 1.8-Mb deletion in the Azoospermia Factor
c region. Genomics 83: 1046-1052
133. Natoli TA, Alberta JA, Bortvin A, Taglienti ME, Menke DB, Loring
J, Jaenisch R, Page DC, Housman DE, Kreidberg JA (2004) Wt1 functions
in the development of germ cells in addition to somatic cell lineages
of the testis. Dev Biol 268: 429-40
134. Bradley J, Baltus A, Skaletsky H, Royce-Tolland M, Dewar K, Page
DC (2004) An X-to-autosome retrogene is required for spermatogenesis
in mice. Nat Genet 36: 872-76
135. Bortvin A, Goodheart M, Liao M, Page DC.
(2004) Dppa3 / Pgc7 / stella is a maternal factor and is not required
for germ cell specification in mice. BMC Dev Biol 23: 4(1):2
136. Yao HH, Matzuk MM, Jorgez CJ, Menke DB,
Page DC, Swain A, Capel B (2004) Follistatin operates downstream of
Wnt4 in mammalian ovary organogenesis. Dev Dyn 230: 210-5
137. Repping S, Korver CM, Oates RD, Silber S,
van der Veen F, Page DC, Rozen S (2004) Are sequence family variants
useful for identifying deletions in the human Y chromosome? Am J Hum
Genet 75: 514-7
138. Lin Y, Page DC (2005) Dazl deficiency leads
to embryonic arrest of germ cell development in XY C57BL/6 mice. Dev
Biol 288: 309-16
139. Pan J, Goodheart M, Chuma S, Nakatsuji N,
Page DC, Wang PJ (2005) RNF17, a component of the mammalian germ cell
nuage, is essential for spermiogenesis. Development 132: 4029-39
140. Hughes JF, Skaletsky H, Pyntikova T, Minx
PJ, Graves T, Rozen S, Wilson RK, Page DC (2005) Conservation of Y-linked
genes during human evolution revealed by comparative sequencing in chimpanzee.
Nature 437: 100-3
141. Wang PJ, Page DC, McCarrey JR (2005) Differential
expression of sex-linked and autosomal germ-cell-specific genes during
spermatogenesis in the mouse. Hum Mol Genet 14: 2911-8
142. Repping S, van Daalen SKM, Brown LG, Korver
CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H,
Page DC, Rozen S (2006) High mutation rates drive widespread architectural
polymorphism among human Y chromosomes. Nat Genet, in press
143. Koubova J, Menke DB, Zhou Q, Capel B, Griswold
MD, Page DC (2006) Retinoic acid regulates sex-specific timing of meiotic
initiation in mice. Proc Natl Acad Sci U S A 103: 2474-2479.
144. Hughes JF, Skaletsky H, Rozen S, Wilson
RK, Page DC (2006) Has the chimpanzee Y chromosome been sequenced? Nat
Genet 38: 853-4
145. Baltus AE, Menke DB, Hu Y, Goodheart ML,
Carpenter AE, de Rooig DG, Page DC (2006). In germ cells of mouse embryonic
ovaries, the decision to enter meiosis precedes premeiotic DNA replication.
Nat Genet 38: 1430-4
146. Cheng Y, Buffone MG, Kouadio M, Goodheart
M, Page DC, Gerton GL, Davidson I, Wang PJ (2007) Abnormal sperm in
mice lacking the Taf7l gene. Mol Cell Biol 27: 2582-9
147. Kimble J, Page DC (2007) The mysteries of
sexual identity: the germ cell’s perspective. Science 316: 400-1
Other Major Publications
1. Page D, Wyman, A., Botstein, D., Homologous Single-Copy Sequences
on the Human X and Y Chromosomes. Recombinant DNA Applications to Human
Disease, eds. Caskey C, White, R. 1983, Cold Spring Harbor, NY. 267-273.
2. Page DC (1986) Sex reversal: deletion mapping the male-determining
function of the human Y chromosome. Cold Spring Harb Symp Quant Biol
51 :229-35
3. Page DC (1987) Hypothesis: a Y-chromosomal gene causes gonadoblastoma
in dysgenetic gonads. Development 101 Suppl: 151-5
4. Simpson E, Chandler P, McLaren A, Goulmy E, Disteche CM, Page DC,
Ferguson-Smith MA (1987) Mapping the H-Y gene. Development 101 Suppl:
157-61
5. Page DC (1988) Is ZFY the sex-determining gene on the human Y chromosome?
Philos Trans R Soc Lond B Biol Sci 322: 155-7
6. Zinn, AR, Page DC (1993) Turner syndrome and
the Y chromosome. In: Basic and Clinical Approach to Turner Syndrome:
Proceedings of the Third International Symposium on Turner Syndrome
(Hibi I, Takano K, editors) pp 49-55. Excerpta Medica, New York
7. Zinn AR, Page DC, Fisher EM (1993) Turner
syndrome: the case of the missing sex chromosome. Trends Genet 9: 90-3
8 Page DC (1994) Y chromosome sequences in Turner's
syndrome and risk of gonadoblastoma or virilisation. Lancet 343: 240
9. . Bogan JS, Page DC (1994) Ovary? Testis?--A
mammalian dilemma. Cell 76: 603-7
10 . Pringle MJ, Page DC, Somatic & germ cell sex determination
in the developing gonad. 3rd ed. Infertility in the Male, ed. Lipshultz
LI. 1996, St. Louis: Mosby Publishing. 1-20.
11 . Page DC (1997) Save the males! Nat Genet 17: 3
12 . Reilly PR, Page DC (1998) We're off to see the genome. Nat Genet
20: 15-7
13 . Page DC, Alagappan R, Brown LG, Lahn B, Menke D, Pooler L, Sawai-Kawaguchi
T, Saxena R, Skaletsky H, Sun C, Tang ZL, Tilford C, Oates R, Silber
S, Rozen S, Wang J, The Y Chromosome and Male Infertility. Fertility
and Reproductive Medicine, ed. Kempers RD, et al. 1998, New York: Elsevier.
13-15.
14. Reilly PR, Clayton EW, Page DC (1998) Symposium: The Human Genome
Project. J. Law Med. Ethics 26: 181-224
15. Lander ES, Page DC, Lifton R (2000) Annual Review of Genomics and
Human Genetics. Vol. 1
16. Lander ES, Page DC, Lifton R, (2001) Annual Review of Genomics and
Human Genetics. Vol. 2
17. Kuroda-Kawaguchi T, Skaletsky H, Page DC (2001) The human Y chromosome
mapping and sequencing project. Experimental Medicine 19: 876-878
18. Lander ES, Page DC, Lifton R (2002) Annual Review of Genomics and
Human Genetics. Vol. 3
19. Lander ES, Page DC, Lifton R (2003) Annual Review of Genomics and
Human Genetics. Vol. 4
20. Lander ES, Page DC, Chakravarti A (2004)
Annual Review of Genomics and Human Genetics. Volume 5
21. Page DC (2004) Curt Stern Award Address.
On low expectations exceeded; or, the genomic salvation of the Y chromosome.
Am J Hum Genet 74: 399-402
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