等中心 Y 染色体，假常染色体区域 1 有多个断裂点。

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2024-07-29 DOI:10.1159/000540634

Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, Atsushi Hattori, Kanako Tanase-Nakao, Akiyoshi Osaka, Toshiyuki Iwahata, Hiroshi Okada, Yoko Kuroki, Maki Fukami

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引用次数: 0

摘要

引言等位Y染色体是人类基因组中比较常见的结构变异。具有短臂断点的等中心 Y 染色体[idic(Yq)]的基本机制仍有待明确：我们遇到了一名患有无精子症和轻度矮小的日本男子。G 带和基于阵列的比较基因组杂交表明，他的核型为 45,X/46,X,idic(Y)(qter→p11.32::p11.32→qter)，末端缺失约 1.8 Mb。全基因组测序表明，Y 染色体在假常染色体 1 区（PAR1）的 ~7 kb 区域有四个断裂点：结论：该病例被认为是 PAR1 中多条 DNA 双链断裂导致的 idic（Yq）。这种重排可能是由 PAR1 特异的染色质结构促成的。该患者的临床特征可归因于SHOX单倍体缺乏症和45,X细胞系的存在，尽管一些Yq基因的拷贝数增益和PAR1的大小减小也可能是导致其生精功能衰竭的原因。

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Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1.

Introduction: Isodicentric Y chromosomes are relatively common structural variants of the human genome. The underlying mechanism of isodicentric Y chromosomes with short arm breakpoints [idic(Yq)] remains to be clarified.

Case presentation: We encountered a Japanese man with azoospermia and mild short stature. G-banding and array-based comparative genomic hybridization indicated that his karyotype was 45,X/46,X,idic(Y)(qter→p11.32::p11.32→qter) with a ∼1.8 Mb terminal deletion. Whole-genome sequencing suggested that the Y chromosome had four breakpoints in a ∼7 kb region of the pseudoautosomal region 1 (PAR1).

Conclusion: This case was assumed to have an idic(Yq) resulting from multiple DNA double-strand breaks in PAR1. This rearrangement may have been facilitated by the PAR1-specific chromatin architecture. The clinical features of the patient can be ascribed to SHOX haploinsufficiency and the presence of a 45,X cell line, although copy-number gains of some Yq genes and the size reduction of PAR1 may also contribute to his spermatogenic failure.

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.