{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T21:49:02Z","timestamp":1792014542861,"version":"4.4.0"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"6942","license":[{"start":{"date-parts":[[2003,6,19]],"date-time":"2003-06-19T00:00:00Z","timestamp":1055980800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2003,6,19]],"date-time":"2003-06-19T00:00:00Z","timestamp":1055980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[2003,6,19]]},"DOI":"10.1038\/nature01722","type":"journal-article","created":{"date-parts":[[2003,6,18]],"date-time":"2003-06-18T14:33:51Z","timestamp":1055946831000},"page":"825-837","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1809,"title":["The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes"],"prefix":"10.1038","volume":"423","author":[{"given":"Helen","family":"Skaletsky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Kuroda-Kawaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Minx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holland S.","family":"Cordum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LaDeana","family":"Hillier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura G.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjoerd","family":"Repping","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana","family":"Pyntikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johar","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamberlyn","family":"Bieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asif","family":"Chinwalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Delehaunty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Delehaunty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ginger","family":"Fewell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucinda","family":"Fulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Fulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Graves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun-Fang","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Latrielle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Mardis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Maupin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"McPherson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracie","family":"Miner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Nash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Ozersky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kymberlie","family":"Pepin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Rock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Rohlfing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsi","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aye","family":"Tin-Wollam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiaw-Pyng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Waterston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Rozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Page","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,6,19]]},"reference":[{"key":"BFnature01722_CR1","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1126\/science.53.1378.503","volume":"53","author":"TS Painter","year":"1921","unstructured":"Painter, T. S. The Y-chromosome in mammals. Science 53, 503\u2013504 (1921)","journal-title":"Science"},{"key":"BFnature01722_CR2","first-page":"147","volume":"9","author":"C Stern","year":"1957","unstructured":"Stern, C. The problem of complete Y-linkage in men. Am. J. Hum. Genet. 9, 147\u2013166 (1957)","journal-title":"Am. J. Hum. Genet."},{"key":"BFnature01722_CR3","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/183302a0","volume":"183","author":"PA Jacobs","year":"1959","unstructured":"Jacobs, P. A. & Strong, J. A. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183, 302\u2013303 (1959)","journal-title":"Nature"},{"key":"BFnature01722_CR4","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/S0140-6736(59)91893-8","volume":"1","author":"CE Ford","year":"1959","unstructured":"Ford, C. E., Miller, O. J., Polani, P. E., de Almeida, J. C. & Briggs, J. H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1, 711\u2013713 (1959)","journal-title":"Lancet"},{"key":"BFnature01722_CR5","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-642-88178-7","volume-title":"Sex Chromosomes and Sex-linked Genes","author":"S Ohno","year":"1967","unstructured":"Ohno, S. Sex Chromosomes and Sex-linked Genes (Springer, Berlin, 1967)"},{"key":"BFnature01722_CR6","first-page":"1","volume":"79","author":"PH Vogt","year":"1997","unstructured":"Vogt, P. H. et al. Report of the third international workshop on Y chromosome mapping 1997. Cytogenet. Cell Genet. 79, 1\u201320 (1997)","journal-title":"Cytogenet. Cell Genet."},{"key":"BFnature01722_CR7","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/nature01723","volume":"423","author":"S Rozen","year":"2003","unstructured":"Rozen, S. et al. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423, 873\u2013876 (2003)","journal-title":"Nature"},{"key":"BFnature01722_CR8","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1126\/science.1359640","volume":"258","author":"S Foote","year":"1992","unstructured":"Foote, S., Vollrath, D., Hilton, A. & Page, D. C. The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science 258, 60\u201366 (1992)","journal-title":"Science"},{"key":"BFnature01722_CR9","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1006\/geno.2000.6260","volume":"67","author":"R Saxena","year":"2000","unstructured":"Saxena, R. et al. Four DAZ genes in two clusters found in AZFc region of human Y chromosome. Genomics 67, 256\u2013267 (2000)","journal-title":"Genomics"},{"key":"BFnature01722_CR10","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1038\/35057170","volume":"409","author":"C Tilford","year":"2001","unstructured":"Tilford, C. et al. A physical map of the human Y chromosome. Nature 409, 943\u2013945 (2001)","journal-title":"Nature"},{"key":"BFnature01722_CR11","doi-asserted-by":"crossref","first-page":"7354","DOI":"10.1073\/pnas.97.13.7354","volume":"97","author":"P Shen","year":"2000","unstructured":"Shen, P. et al. Population genetic implications from sequence variation in four Y chromosome genes. Proc. Natl Acad. Sci. USA 97, 7354\u20137359 (2000)","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnature01722_CR12","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/70539","volume":"23","author":"C Sun","year":"1999","unstructured":"Sun, C. et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nature Genet. 23, 429\u2013432 (1999)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR13","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng757","volume":"29","author":"T Kuroda-Kawaguchi","year":"2001","unstructured":"Kuroda-Kawaguchi, T. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nature Genet. 29, 279\u2013286 (2001)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR14","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"Human Genome Sequencing Consortium","year":"2001","unstructured":"Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome. Nature 409, 860\u2013921 (2001)","journal-title":"Nature"},{"key":"BFnature01722_CR15","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1126\/science.1058040","volume":"291","author":"JC Venter","year":"2001","unstructured":"Venter, J. C. et al. The sequence of the human genome. Science 291, 1304\u20131351 (2001)","journal-title":"Science"},{"key":"BFnature01722_CR16","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1126\/science.1065042","volume":"294","author":"MG Schueler","year":"2001","unstructured":"Schueler, M. G., Higgins, A. W., Rudd, M. K., Gustashaw, K. & Willard, H. F. Genomic and genetic definition of a functional human centromere. Science 294, 109\u2013115 (2001)","journal-title":"Science"},{"key":"BFnature01722_CR17","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ng1293-368","volume":"5","author":"C Tyler-Smith","year":"1993","unstructured":"Tyler-Smith, C. et al. Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nature Genet. 5, 368\u2013375 (1993)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR18","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1101\/gr.175701","volume":"11","author":"RF Yeh","year":"2001","unstructured":"Yeh, R. F., Lim, L. P. & Burge, C. B. Computational inference of homologous gene structures in the human genome. Genome Res. 11, 803\u2013816 (2001)","journal-title":"Genome Res."},{"key":"BFnature01722_CR19","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1126\/science.278.5338.675","volume":"278","author":"BT Lahn","year":"1997","unstructured":"Lahn, B. T. & Page, D. C. Functional coherence of the human Y chromosome. Science 278, 675\u2013680 (1997)","journal-title":"Science"},{"key":"BFnature01722_CR20","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/311119a0","volume":"311","author":"DC Page","year":"1984","unstructured":"Page, D. C., Harper, M. E., Love, J. & Botstein, D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311, 119\u2013123 (1984)","journal-title":"Nature"},{"key":"BFnature01722_CR21","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1101\/gr.7.4.307","volume":"7","author":"S Mumm","year":"1997","unstructured":"Mumm, S., Molini, B., Terrell, J., Srivastava, A. & Schlessinger, D. Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution. Genome Res. 7, 307\u2013314 (1997)","journal-title":"Genome Res."},{"key":"BFnature01722_CR22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/7.1.1","volume":"7","author":"A Schwartz","year":"1998","unstructured":"Schwartz, A. et al. 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\u201311 (1998)","journal-title":"Hum. Mol. Genet."},{"key":"BFnature01722_CR23","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/0022-2836(88)90110-6","volume":"203","author":"C Tyler-Smith","year":"1988","unstructured":"Tyler-Smith, C., Taylor, L. & Muller, U. Structure of a hypervariable tandemly repeated DNA sequence on the short arm of the human Y chromosome. J. Mol. Biol. 203, 837\u2013848 (1988)","journal-title":"J. Mol. Biol."},{"key":"BFnature01722_CR24","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/S0959-437X(05)80112-1","volume":"2","author":"JA Graves","year":"1992","unstructured":"Graves, J. A. & Schmidt, M. M. Mammalian sex chromosomes: Design or accident? Curr. Opin. Genet. Dev. 2, 890\u2013901 (1992)","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFnature01722_CR25","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/29522","volume":"394","author":"K Jegalian","year":"1998","unstructured":"Jegalian, K. & Page, D. C. A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature 394, 776\u2013780 (1998)","journal-title":"Nature"},{"key":"BFnature01722_CR26","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1126\/science.286.5441.964","volume":"286","author":"BT Lahn","year":"1999","unstructured":"Lahn, B. T. & Page, D. C. Four evolutionary strata on the human X chromosome. Science 286, 964\u2013967 (1999)","journal-title":"Science"},{"key":"BFnature01722_CR27","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/10279","volume":"22","author":"ML Delbridge","year":"1999","unstructured":"Delbridge, M. L., Lingenfelter, P. A., Disteche, C. M. & Graves, J. A. M. The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nature Genet. 22, 223\u2013224 (1999)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR28","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/10282","volume":"22","author":"S Mazeyrat","year":"1999","unstructured":"Mazeyrat, S., Saut, N., Mattei, M. G. & Mitchell, M. J. RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene. Naure Genet. 22, 224\u2013226 (1999)","journal-title":"Naure Genet."},{"key":"BFnature01722_CR29","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ng1196-292","volume":"14","author":"R Saxena","year":"1996","unstructured":"Saxena, R. et al. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292\u2013299 (1996)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR30","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/7771","volume":"21","author":"BT Lahn","year":"1999","unstructured":"Lahn, B. T. & Page, D. C. Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nature Genet. 21, 429\u2013433 (1999)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR31","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0092-8674(83)90331-8","volume":"33","author":"JW Szostak","year":"1983","unstructured":"Szostak, J. W., Orr-Weaver, T. L., Rothstein, R. J. & Stahl, F. W. The double-strand-break repair model for recombination. Cell 33, 25\u201335 (1983)","journal-title":"Cell"},{"key":"BFnature01722_CR32","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/292306a0","volume":"292","author":"JA Jackson","year":"1981","unstructured":"Jackson, J. A. & Fink, G. R. Gene conversion between duplicated genetic elements in yeast. Nature 292, 306\u2013311 (1981)","journal-title":"Nature"},{"key":"BFnature01722_CR33","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1038\/35057149","volume":"409","author":"The International SNP Map Working Group","year":"2001","unstructured":"The International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928\u2013933 (2001)","journal-title":"Nature"},{"key":"BFnature01722_CR34","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/81685","volume":"26","author":"PA Underhill","year":"2000","unstructured":"Underhill, P. A. et al. Y chromosome sequence variation and the history of human populations. Nature Genet. 26, 358\u2013361 (2000)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR35","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1126\/science.287.5461.2185","volume":"287","author":"M Adams","year":"2000","unstructured":"Adams, M. et al. The genome sequence of Drosophila melanogaster. Science 287, 2185\u20132195 (2000)","journal-title":"Science"},{"key":"BFnature01722_CR36","doi-asserted-by":"crossref","first-page":"13225","DOI":"10.1073\/pnas.231484998","volume":"98","author":"AB Carvalho","year":"2001","unstructured":"Carvalho, A. B., Dobo, B. A., Vibranovski, M. D. & Clark, A. G. Identification of five new genes on the Y chromosome of Drosophila melanogaster. Proc. Natl Acad. Sci. USA 98, 13225\u201313230 (2001)","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnature01722_CR37","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/nature01262","volume":"420","author":"RH Waterston","year":"2002","unstructured":"Waterston, R. H. et al. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520\u2013562 (2002)","journal-title":"Nature"},{"key":"BFnature01722_CR38","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1126\/science.1072047","volume":"297","author":"JA Bailey","year":"2002","unstructured":"Bailey, J. A. et al. Recent segmental duplications in the human genome. Science 297, 1003\u20131007 (2002)","journal-title":"Science"},{"key":"BFnature01722_CR39","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","volume":"18","author":"P Stankiewicz","year":"2002","unstructured":"Stankiewicz, P. & Lupski, J. R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74\u201382 (2002)","journal-title":"Trends Genet."},{"key":"BFnature01722_CR40","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1136\/jmg.2.2.142","volume":"2","author":"MA Ferguson-Smith","year":"1965","unstructured":"Ferguson-Smith, M. A. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2, 142\u2013155 (1965)","journal-title":"J. Med. Genet."},{"key":"BFnature01722_CR41","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0168-9525(93)90230-F","volume":"9","author":"AR Zinn","year":"1993","unstructured":"Zinn, A. R., Page, D. C. & Fisher, E. M. C. Turner syndrome: The case of the missing sex chromosome. Trends Genet. 9, 90\u201393 (1993)","journal-title":"Trends Genet."},{"key":"BFnature01722_CR42","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/ng0597-54","volume":"16","author":"E Rao","year":"1997","unstructured":"Rao, E. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16, 54\u201363 (1997)","journal-title":"Nature Genet."},{"key":"BFnature01722_CR43","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1093\/oxfordjournals.hmg.a018920","volume":"9","author":"C Sun","year":"2000","unstructured":"Sun, C. et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Mol. Genet. 9, 2291\u20132296 (2000)","journal-title":"Hum. Mol. Genet."},{"key":"BFnature01722_CR44","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1136\/jmg.37.10.752","volume":"37","author":"P Blanco","year":"2000","unstructured":"Blanco, P. et al. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J. Med. Genet. 37, 752\u2013758 (2000)","journal-title":"J. Med. Genet."},{"key":"BFnature01722_CR45","doi-asserted-by":"crossref","first-page":"2563","DOI":"10.1093\/hmg\/9.17.2563","volume":"9","author":"C Kamp","year":"2000","unstructured":"Kamp, C., Hirschmann, P., Voss, H., Huellen, K. & Vogt, P. H. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum. Mol. Genet. 9, 2563\u20132572 (2000)","journal-title":"Hum. Mol. Genet."},{"key":"BFnature01722_CR46","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1086\/342928","volume":"71","author":"S Repping","year":"2002","unstructured":"Repping, S. et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71, 906\u2013922 (2002)","journal-title":"Am. J. Hum. Genet."},{"key":"BFnature01722_CR47","doi-asserted-by":"crossref","first-page":"14440","DOI":"10.1073\/pnas.96.25.14440","volume":"96","author":"L Carrel","year":"1999","unstructured":"Carrel, L., Cottle, A. A., Goglin, K. C. & Willard, H. F. A first-generation X-inactivation profile of the human X chromosome. Proc. Natl Acad. Sci. USA 96, 14440\u201314444 (1999)","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnature01722_CR48","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1101\/gr.169601","volume":"11","author":"K Osoegawa","year":"2001","unstructured":"Osoegawa, K. et al. A bacterial artificial chromosome library for sequencing the complete human genome. Genome Res. 11, 483\u2013496 (2001)","journal-title":"Genome Res."},{"key":"BFnature01722_CR49","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1006\/geno.1999.6082","volume":"63","author":"S Zhao","year":"2000","unstructured":"Zhao, S. et al. Human BAC ends quality assessment and sequence analyses. Genomics 63, 321\u2013332 (2000)","journal-title":"Genomics"},{"key":"BFnature01722_CR50","doi-asserted-by":"crossref","first-page":"11256","DOI":"10.1073\/pnas.88.24.11256","volume":"88","author":"JM Watson","year":"1991","unstructured":"Watson, J. M., Spencer, J. A., Riggs, A. D. & Graves, J. A. Sex chromosome evolution: Platypus gene mapping suggests that part of the human X chromosome was originally autosomal. Proc. Natl Acad. Sci. USA 88, 11256\u201311260 (1991)","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/Art39.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/Art39","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/Art39.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T21:10:16Z","timestamp":1792012216000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/Art39"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,19]]},"references-count":50,"journal-issue":{"issue":"6942","published-print":{"date-parts":[[2003,6,19]]}},"alternative-id":["BFnature01722"],"URL":"https:\/\/doi.org\/10.1038\/nature01722","relation":{},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,19]]},"assertion":[{"value":"7 March 2003","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 April 2003","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2003","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no competing financial interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}}]}}