两个序列几乎相同的新型人类RAB基因分别定位于一个端粒相关区域：22q13.3的亚端粒区域和祖先端粒带2q13。

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13.

作者信息

Wong A C, Shkolny D, Dorman A, Willingham D, Roe B A, McDermid H E

机构信息

Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 2E9, Canada.

出版信息

Genomics. 1999 Aug 1;59(3):326-34. doi: 10.1006/geno.1999.5889.

DOI:10.1006/geno.1999.5889

PMID:10444334

Abstract

Two closely related genes have been identified at 2q13 and 22q13.3. These genes show similarity to members of the RAB family of small GTPases. RABL2A and RABL2B differ by three conservative amino acid changes over a total of 228 residues. Both are expressed in all tissues tested. Northern analysis showed that a 2.5-kb transcript is expressed in all tissues tested while a 1.4-kb transcript is specifically expressed only in muscle. The size difference between these two transcripts is the result of differential splicing of an intron within the 3' UTR. RABL2B is located within the subtelomeric region of 22q13.3. RABL2A maps to 2q13, the site of an ancestral telomere fusion event, suggesting that it also may be a subtelomeric gene.

摘要

在2q13和22q13.3处已鉴定出两个密切相关的基因。这些基因与小GTP酶RAB家族的成员具有相似性。RABL2A和RABL2B在总共228个残基上有三个保守氨基酸变化。两者在所有测试组织中均有表达。Northern分析表明，一个2.5kb的转录本在所有测试组织中表达，而一个1.4kb的转录本仅在肌肉中特异性表达。这两个转录本之间的大小差异是3'UTR内一个内含子可变剪接的结果。RABL2B位于22q13.3的亚端粒区域。RABL2A定位于2q13，即一个祖先端粒融合事件的位点，这表明它也可能是一个亚端粒基因。