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However, the Y chromosome is poorly characterized due to massive palindromes and inverted repeats, which increase the likelihood of genomic rearrangements, resulting in short tandem repeats on the Y chromosome or long fragment deletions. The present study reports a large-scale (2.573~2.648 Mb) deletion in the Yp11.2 region in a Chinese population based on the analysis of 34 selected Y-specific sequence-tagged sites and subsequent sequencing of the breakpoint junctions on the Y chromosome from 5,068,482\u20135,142,391 bp to 7,715,462\u20137,716,695 bp. The results of sequence analysis indicated that the deleted region included part or all of the following five genes: <jats:italic>PCDH11Y<\/jats:italic>, <jats:italic>TSPY<\/jats:italic>, <jats:italic>AMELY<\/jats:italic>, <jats:italic>TBL1Y<\/jats:italic>, and <jats:italic>RKY<\/jats:italic>. These genes are associated with spermatogenesis or amelogenesis and various other processes; however, specific physiological functions and molecular mechanisms of these genes remain unclear. Notably, individuals with this deletion pattern did not have an obvious pathological phenotype but manifested some degree of amelogenesis imperfecta.<\/jats:p>","DOI":"10.1007\/s00414-021-02596-x","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T16:31:08Z","timestamp":1619454668000},"page":"1351-1358","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular characterization of the Yp11.2 region deletion in the Chinese Han population"],"prefix":"10.1007","volume":"135","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5813-0404","authenticated-orcid":false,"given":"Qianqian","family":"Pang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingai","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenghao","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junfang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"2596_CR1","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1007\/s00439-017-1769-8","volume":"136","author":"P Hallast","year":"2017","unstructured":"Hallast P, Jobling MA (2017) The Y chromosomes of the great apes. 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All procedures performed in the present study were approved by the Medical Ethics Committee of Jining Medical School in accordance with the 2013 Helsinki Declaration.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}