Y染色体的AZFc区域具有大量回文序列，且在不育男性中存在一致的复发性缺失。

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

作者信息

Kuroda-Kawaguchi T, Skaletsky H, Brown L G, Minx P J, Cordum H S, Waterston R H, Wilson R K, Silber S, Oates R, Rozen S, Page D C

机构信息

Howard Hughes Medical Institute, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA.

出版信息

Nat Genet. 2001 Nov;29(3):279-86. doi: 10.1038/ng757.

DOI:10.1038/ng757

PMID:11687796

Abstract

Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative mapping-sequencing process. A complex of three palindromes, the largest spanning 3 Mb with 99.97% identity between its arms, encompasses the AZFc region. The palindromes are constructed from six distinct families of amplicons, with unit lengths of 115-678 kb, and may have resulted from tandem duplication and inversion during primate evolution. The palindromic complex contains 11 families of transcription units, all expressed in testis. Deletions of AZFc that cause infertility are remarkably uniform, spanning a 3.5-Mb segment and bounded by 229-kb direct repeats that probably served as substrates for homologous recombination.

摘要

Y染色体的AZFc（无精子症因子c）区域缺失是已知的最常见的生精失败原因。我们通过使用迭代映射测序过程识别并区分近乎相同的扩增子（大量重复单元），确定了AZFc的完整核苷酸序列。由三个回文结构组成的复合体包含AZFc区域，其中最大的回文结构跨度为3 Mb，其臂之间的同一性为99.97%。这些回文结构由六个不同的扩增子家族构建而成，单元长度为115 - 678 kb，可能是在灵长类动物进化过程中通过串联重复和倒位产生的。该回文复合体包含11个转录单元家族，均在睾丸中表达。导致不育的AZFc缺失非常一致，跨越3.5 Mb的片段，由229 kb的直接重复序列界定，这些重复序列可能是同源重组的底物。