{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T05:52:15Z","timestamp":1771048335422,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1999,12,1]],"date-time":"1999-12-01T00:00:00Z","timestamp":944006400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1999,12]]},"DOI":"10.1038\/70539","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:34:58Z","timestamp":1027672498000},"page":"429-432","source":"Crossref","is-referenced-by-count":281,"title":["An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y"],"prefix":"10.1038","volume":"23","author":[{"given":"Chao","family":"Sun","sequence":"first","affiliation":[]},{"given":"Helen","family":"Skaletsky","sequence":"additional","affiliation":[]},{"given":"Bruce","family":"Birren","sequence":"additional","affiliation":[]},{"given":"Keri","family":"Devon","sequence":"additional","affiliation":[]},{"given":"Zhaolan","family":"Tang","sequence":"additional","affiliation":[]},{"given":"Sherman","family":"Silber","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Oates","sequence":"additional","affiliation":[]},{"given":"David C.","family":"Page","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng1299_429_CR1","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/BF00278879","volume":"34","author":"L Tiepolo","year":"1976","unstructured":"Tiepolo, L. & Zuffardi, O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the Y chromosome long arm. Hum. Genet. 34, 119\u2013124 (1976).","journal-title":"Hum. Genet."},{"key":"BFng1299_429_CR2","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1093\/hmg\/1.1.29","volume":"1","author":"K Ma","year":"1992","unstructured":"Ma, K. et al. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum. Mol. Genet. 1, 29\u201333 (1992).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1299_429_CR3","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/ng0895-383","volume":"10","author":"R Reijo","year":"1995","unstructured":"Reijo, R. et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383\u2013393 ( 1995).","journal-title":"Nature Genet."},{"key":"BFng1299_429_CR4","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1093\/hmg\/5.7.933","volume":"5","author":"PH Vogt","year":"1996","unstructured":"Vogt, P.H. et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5, 933\u2013943 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1299_429_CR5","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1093\/molehr\/2.10.775","volume":"2","author":"SJ Qureshi","year":"1996","unstructured":"Qureshi, S.J. et al. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod. 2, 775 \u2013779 (1996).","journal-title":"Mol. Hum. Reprod."},{"key":"BFng1299_429_CR6","doi-asserted-by":"publisher","first-page":"3848","DOI":"10.1073\/pnas.94.8.3848","volume":"94","author":"DJ Elliott","year":"1997","unstructured":"Elliott, D.J. et al. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl Acad. Sci. USA 94, 3848\u20133853 ( 1997).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng1299_429_CR7","doi-asserted-by":"publisher","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\u2013 680 (1997).","journal-title":"Science"},{"key":"BFng1299_429_CR8","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1093\/hmg\/7.1.97","volume":"7","author":"GM Brown","year":"1998","unstructured":"Brown, G.M. et al. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum. Mol. Genet. 7, 97\u2013 107 (1998).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1299_429_CR9","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1126\/science.1439769","volume":"258","author":"D Vollrath","year":"1992","unstructured":"Vollrath, D. et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258, 52\u2013 59 (1992).","journal-title":"Science"},{"key":"BFng1299_429_CR10","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"M Orita","year":"1989","unstructured":"Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874\u2013 879 (1989).","journal-title":"Genomics"},{"key":"BFng1299_429_CR11","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.7.10.996","volume":"7","author":"PA Underhill","year":"1997","unstructured":"Underhill, P.A. et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res.  7, 996\u20131005 ( 1997).","journal-title":"Genome Res."},{"key":"BFng1299_429_CR12","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1056\/NEJM199702203360802","volume":"336","author":"JL Pryor","year":"1997","unstructured":"Pryor, J.L. et al. Microdeletions in the Y chromosome of infertile men.  N. Engl. J. Med. 336, 534\u2013539 (1997).","journal-title":"N. Engl. J. Med."},{"key":"BFng1299_429_CR13","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1093\/molehr\/4.12.1116","volume":"4","author":"P Grimaldi","year":"1998","unstructured":"Grimaldi, P. et al. Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques. Mol. Hum. Reprod. 4, 1116\u20131121 (1998).","journal-title":"Mol. Hum. Reprod."},{"key":"BFng1299_429_CR14","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1006\/geno.1994.1615","volume":"24","author":"MH Jones","year":"1994","unstructured":"Jones, M.H. et al. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin. Genomics  24, 266\u2013275 (1994).","journal-title":"Genomics"},{"key":"BFng1299_429_CR15","doi-asserted-by":"publisher","first-page":"1695","DOI":"10.1093\/hmg\/5.11.1695","volume":"5","author":"MH Jones","year":"1996","unstructured":"Jones, M.H. et al. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. Hum. Mol. Genet. 5, 1695\u2013 1701 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1299_429_CR16","doi-asserted-by":"publisher","first-page":"8794","DOI":"10.1073\/pnas.89.18.8794","volume":"89","author":"HB Shizuya","year":"1992","unstructured":"Shizuya, H.B. et al. Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector.  Proc. Natl Acad. Sci. USA 89, 8794\u2013 8797 (1992).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng1299_429_CR17","doi-asserted-by":"publisher","first-page":"6157","DOI":"10.1073\/pnas.88.14.6157","volume":"88","author":"DL Nelson","year":"1991","unstructured":"Nelson, D.L. et al. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: Identification of clones associated with a disease locus. Proc. Natl Acad. Sci. USA 88, 6157\u20136161 ( 1991).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng1299_429_CR18","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1101\/gr.7.11.1072","volume":"7","author":"M Marra","year":"1997","unstructured":"Marra, M. et al. High throughput fingerprint analysis of large-insert clones. Genome Res. 7, 1072\u20131084 (1997).","journal-title":"Genome Res."},{"key":"BFng1299_429_CR19","doi-asserted-by":"publisher","first-page":"11261","DOI":"10.1073\/pnas.88.24.11261","volume":"88","author":"EC Uberbacher","year":"1991","unstructured":"Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl Acad. Sci. USA 88, 11261\u2013 11265 (1991).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng1299_429_CR20","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1006\/jmbi.1997.0951","volume":"268","author":"C Burge","year":"1997","unstructured":"Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78\u201394 (1997).","journal-title":"J. Mol. Biol."},{"key":"BFng1299_429_CR21","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","volume":"215","author":"SF Altschul","year":"1990","unstructured":"Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403\u2013410 ( 1990).","journal-title":"J. Mol. Biol."},{"key":"BFng1299_429_CR22","doi-asserted-by":"publisher","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\u2013 967 (1999).","journal-title":"Science"},{"key":"BFng1299_429_CR23","first-page":"3288","volume":"57","author":"C Andreutti-Zaugg","year":"1997","unstructured":"Andreutti-Zaugg, C., Scott, R.J. & Iggo, R. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques.  Cancer Res. 57, 3288\u20133293 (1997).","journal-title":"Cancer Res."},{"key":"BFng1299_429_CR24","first-page":"670","volume":"36","author":"CA Sargent","year":"1999","unstructured":"Sargent, C.A. et al. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.  J. Med. Genet. 36, 670\u2013677 (1999).","journal-title":"J. Med. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1299_429.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1299_429","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1299_429.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:05:19Z","timestamp":1684447519000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1299_429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,12]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,12]]}},"alternative-id":["BFng1299_429"],"URL":"https:\/\/doi.org\/10.1038\/70539","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,12]]}}}