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人类肌红蛋白基因的组织

Organization of the human myoglobin gene.

作者信息

Weller P, Jeffreys A J, Wilson V, Blanchetot A

出版信息

EMBO J. 1984 Feb;3(2):439-46. doi: 10.1002/j.1460-2075.1984.tb01825.x.

DOI:10.1002/j.1460-2075.1984.tb01825.x
PMID:6571704
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC557363/
Abstract

Cross-hybridization of the grey seal myoglobin gene to human DNA detected a single human myoglobin gene plus an extensive family of sequences apparently related to the central exon of this gene. The functional human gene is 10.4 kb long and has a haemoglobin-like three exon/two intron structure with long non-coding regions similar to its seal homologue. At least 300 bp of 5'-flanking region are closely homologous between the two genes, with the exception of a divergent purine-rich region 68-114 bp upstream of the cap site. A diverged tandem repetitive sequence based on (GGAT)165 is located 1100-1750 bp upstream from the gene; internal homology units within this sequence suggest sequence homogenization by gene microconversions. A second 33-bp tandem repeat element in the first intron is flanked by a 9-bp direct repeat, shares homology with other tandem repetitive elements in the human genome and may represent a novel form of transposable element.

摘要

灰海豹肌红蛋白基因与人类DNA的交叉杂交检测到一个单一的人类肌红蛋白基因以及一个明显与该基因中央外显子相关的广泛序列家族。功能性人类基因长度为10.4 kb,具有类似血红蛋白的三个外显子/两个内含子结构,其长非编码区与其海豹同源物相似。两个基因之间至少300 bp的5'侧翼区域紧密同源,但帽位点上游68 - 114 bp处有一个不同的富含嘌呤区域除外。一个基于(GGAT)165的发散串联重复序列位于基因上游1100 - 1750 bp处;该序列内的内部同源单位表明通过基因微转换实现了序列同质化。第一个内含子中的第二个33 bp串联重复元件两侧是一个9 bp的直接重复序列,与人类基因组中的其他串联重复元件具有同源性,可能代表一种新型的转座元件形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af1/557363/ae25e958cd0e/emboj00306-0176-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af1/557363/ae25e958cd0e/emboj00306-0176-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af1/557363/ae25e958cd0e/emboj00306-0176-a.jpg

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