Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.
Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.
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DOI：
10.3389/fgene.2021.669405
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发表时间：
2021
影响因子：
3.7
通讯作者：
Cruciani F
中科院分区：
文献类型：
--
作者：
Ravasini F;D'Atanasio E;Bonito M;Bonucci B;Della Rocca C;Berti A;Trombetta B;Cruciani F
无精子因子c区(AZFc)位于人类Y染色体的长臂上，经常参与染色体重排，主要是由于组成它的几乎相同的序列(扩增子)之间发生的非等位同源重组事件。这些重排可能有重大的表型效应，如生精失败或其他与男性不育有关的病理。此外，它们也可能与法医遗传学有关，因为法医分析中常用的一些Y染色体短串联重复序列(Y-STR)位于AZFc的扩增片段或扩增片段间序列中。在之前的研究中，我们鉴定了四个系统发育相关的样本，DYS448上有一个零等位基因，DYF387S1上有一个四等位基因模式，两个Y-STR位于AZFc。通过NGS读取深度分析，我们发现异常的Y-STR模式可能是由于1.6Mb的缺失同时发生或在3.5Mb的复制事件之后发生的。观察到的大的基因组重排导致RBMY基因家族的拷贝数减少以及其他AZFc基因的复制。根据另外16个Y-STR的多样性，我们估计复制/缺失事件至少发生在20代之前，表明它没有受到负选择的影响。
The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. In a previous study, we identified four phylogenetically related samples with a null allele at DYS448 and a tetrallelic pattern at DYF387S1, two Y-STRs located in the AZFc. Through NGS read depth analysis, we found that the unusual Y-STR pattern may be due to a 1.6 Mb deletion arising concurrently or after a 3.5 Mb duplication event. The observed large genomic rearrangement results in copy number reduction for the RBMY gene family as well as duplication of other AZFc genes. Based on the diversity of 16 additional Y-STRs, we estimated that the duplication/deletion event occurred at least twenty generations ago, suggesting that it has not been affected by negative selection.
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影响因子：
3.9
作者：
Balaresque, Patricia;Bowden, Georgina R.;Parkin, Emma J.;Omran, Ghada A.;Heyer, Evelyne;Quintana-Murci, Lluis;Roewer, Lutz;Stoneking, Mark;Nasidze, Ivan;Carvalho-Silva, Denise R.;Tyler-Smith, Chris;de Knijff, Peter;Jobling, Mark A.
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Jobling, Mark A.
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Rozen, S
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Ballantyne, Kaye N.;Goedbloed, Miriam;Kayser, Manfred
通讯作者：
Kayser, Manfred
影响因子：
3.1
作者：
Ballantyne, Kaye N.;Keerl, Victoria;Kayser, Manfred
通讯作者：
Kayser, Manfred
影响因子：
2.2
作者：
Gusmao, L;Butler, JM;Schneider, PM
通讯作者：
Schneider, PM