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Molecular characterization of the Yp11.2 region deletion in the Chinese Han population
The Y chromosome is male-specific and is important for spermatogenesis and male fertility. 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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8205872/ https://www.ncbi.nlm.nih.gov/pubmed/33903958 http://dx.doi.org/10.1007/s00414-021-02596-x |
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author | Pang, Qianqian Lin, Qingai Wang, Di Sun, Zhenghao Wang, Junfang |
author_facet | Pang, Qianqian Lin, Qingai Wang, Di Sun, Zhenghao Wang, Junfang |
author_sort | Pang, Qianqian |
collection | PubMed |
description | The Y chromosome is male-specific and is important for spermatogenesis and male fertility. 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 5,068,482–5,142,391 bp to 7,715,462–7,716,695 bp. The results of sequence analysis indicated that the deleted region included part or all of the following five genes: PCDH11Y, TSPY, AMELY, TBL1Y, and RKY. 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00414-021-02596-x. |
format | Online Article Text |
id | pubmed-8205872 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-82058722021-07-01 Molecular characterization of the Yp11.2 region deletion in the Chinese Han population Pang, Qianqian Lin, Qingai Wang, Di Sun, Zhenghao Wang, Junfang Int J Legal Med Original Article The Y chromosome is male-specific and is important for spermatogenesis and male fertility. 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 5,068,482–5,142,391 bp to 7,715,462–7,716,695 bp. The results of sequence analysis indicated that the deleted region included part or all of the following five genes: PCDH11Y, TSPY, AMELY, TBL1Y, and RKY. 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00414-021-02596-x. Springer Berlin Heidelberg 2021-04-26 2021 /pmc/articles/PMC8205872/ /pubmed/33903958 http://dx.doi.org/10.1007/s00414-021-02596-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Original Article Pang, Qianqian Lin, Qingai Wang, Di Sun, Zhenghao Wang, Junfang Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title | Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title_full | Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title_fullStr | Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title_full_unstemmed | Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title_short | Molecular characterization of the Yp11.2 region deletion in the Chinese Han population |
title_sort | molecular characterization of the yp11.2 region deletion in the chinese han population |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8205872/ https://www.ncbi.nlm.nih.gov/pubmed/33903958 http://dx.doi.org/10.1007/s00414-021-02596-x |
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