The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Brian McStay
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引用次数: 5

Abstract

The p-arms of the five human acrocentric chromosomes bear nucleolar organizer regions (NORs) comprising ribosomal gene (rDNA) repeats that are organized in a homogeneous tandem array and transcribed in a telomere-to-centromere direction. Precursor ribosomal RNA transcripts are processed and assembled into ribosomal subunits, the nucleolus being the physical manifestation of this process. I review current understanding of nucleolar chromosome biology and describe current exploration into a role for the NOR chromosomal context. Full DNA sequences for acrocentric p-arms are now emerging, aided by the current revolution in long-read sequencing and genome assembly. Acrocentric p-arms vary from 10.1 to 16.7 Mb, accounting for ∼2.2% of the genome. Bordering rDNA arrays, distal junctions, and proximal junctions are shared among the p-arms, with distal junctions showing evidence of functionality. The remaining p-arm sequences comprise multiple satellite DNA classes and segmental duplications that facilitate recombination between heterologous chromosomes, which is likely also involved in Robertsonian translocations.

人类顶中心染色体的p臂有一套不同的规则。
人类5条多中心染色体的p臂具有核仁组织区(NORs),核糖体基因(rDNA)重复序列以均匀串联阵列组织,并沿端粒-着丝粒方向转录。前体核糖体RNA转录物被加工并组装成核糖体亚基,核仁是这一过程的物理表现。我回顾了目前对核仁染色体生物学的理解,并描述了目前对NOR染色体背景的作用的探索。在当前长读测序和基因组组装的革命的帮助下,对肢的全DNA序列正在出现。单中心p臂的长度从10.1到16.7 Mb不等,占基因组的2.2%。相邻的rDNA阵列、远端连接和近端连接在p臂中共享,远端连接显示出功能的证据。其余的p臂序列包括多个卫星DNA类别和片段复制,促进异源染色体之间的重组,这可能也涉及罗伯逊易位。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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