Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.
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DOI：
10.1093/nar/gkl354
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发表时间：
2006
影响因子：
14.9
通讯作者：
Wells RD
中科院分区：
文献类型：
--
作者：
Bacolla A;Collins JR;Gold B;Chuzhanova N;Yi M;Stephens RM;Stefanov S;Olsh A;Jakupciak JP;Dean M;Lempicki RA;Cooper DN;Wells RD
具有镜像重复对称性的同型（嘌呤·嘧啶）序列（R·Y 束）形成稳定的三链体，阻止复制和转录并促进遗传重排。我们进行了系统搜索，绘制了人类基因组中最长 R•Y 束的位置图，以评估其潜在功能。具有≥250个不间断碱基对的814个R·Y束优先聚集在性染色体的假常染色体区域，并位于228个注释基因的内含子中，这些基因的蛋白质产物与细胞膜的功能相关。这些基因在大脑中高度表达，尤其是与精神分裂症等精神疾病易感性相关的基因。 1957 个基因组包含 2886 个 R•Y 序列，具有 ≥100 个不间断碱基对，还富含与磷酸化、信号转导、发育和形态发生相关的蛋白质。对小鼠和黑猩猩基因组中≥250 bp R•Y 序列的比较表明，这些序列比周围区域突变得更快，并且在人类中比在黑猩猩中更长。这些结果支持长R•Y 束在进化过程中通过破坏染色体DNA 的稳定性从而诱导修复和突变来促进重组和基因组多样性的作用。
Homo(purine•pyrimidine) sequences (R•Y tracts) with mirror repeat symmetries form stable triplexes that block replication and transcription and promote genetic rearrangements. A systematic search was conducted to map the location of the longest R•Y tracts in the human genome in order to assess their potential function(s). The 814 R•Y tracts with ≥250 uninterrupted base pairs were preferentially clustered in the pseudoautosomal region of the sex chromosomes and located in the introns of 228 annotated genes whose protein products were associated with functions at the cell membrane. These genes were highly expressed in the brain and particularly in genes associated with susceptibility to mental disorders, such as schizophrenia. The set of 1957 genes harboring the 2886 R•Y tracts with ≥100 uninterrupted base pairs was additionally enriched in proteins associated with phosphorylation, signal transduction, development and morphogenesis. Comparisons of the ≥250 bp R•Y tracts in the mouse and chimpanzee genomes indicated that these sequences have mutated faster than the surrounding regions and are longer in humans than in chimpanzees. These results support a role for long R•Y tracts in promoting recombination and genome diversity during evolution through destabilization of chromosomal DNA, thereby inducing repair and mutation.
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影响因子：
56.9
作者：
Carninci, P;Kasukawa, T;Hayashizaki, Y
通讯作者：
Hayashizaki, Y
影响因子：
7
作者：
Jensen-Seaman, MI;Furey, TS;Jacob, HJ
通讯作者：
Jacob, HJ
影响因子：
3.5
作者：
Gotter, AL;Shaikh, TH;Emanuel, BS
通讯作者：
Emanuel, BS
影响因子：
5.3
作者：
HOFFMANLIEBERMANN, B;LIEBERMANN, D;COHEN, SN
通讯作者：
COHEN, SN
影响因子：
56.9
作者：
Katayama, S;Tomaru, Y;Wahlestedt, C
通讯作者：
Wahlestedt, C