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人类染色体 22q11.2 上长的基因间非编码 RNA 基因家族带有 DNA 易位断点/富含 AT 序列。

A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence.

机构信息

Department of Molecular Genetics and Microbiology, School of Medicine Stony Brook University, Stony Brook, New York, United States of America.

出版信息

PLoS One. 2018 Apr 18;13(4):e0195702. doi: 10.1371/journal.pone.0195702. eCollection 2018.

DOI:10.1371/journal.pone.0195702
PMID:29668722
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5906017/
Abstract

FAM230C, a long intergenic non-coding RNA (lincRNA) gene in human chromosome 13 (chr13) is a member of lincRNA genes termed family with sequence similarity 230. An analysis using bioinformatics search tools and alignment programs was undertaken to determine properties of FAM230C and its related genes. Results reveal that the DNA translocation element, the Translocation Breakpoint Type A (TBTA) sequence, which consists of satellite DNA, Alu elements, and AT-rich sequences is embedded in the FAM230C gene. Eight lincRNA genes related to FAM230C also carry the TBTA sequences. These genes were formed from a large segment of the 3' half of the FAM230C sequence duplicated in chr22, and are specifically in regions of low copy repeats (LCR22)s, in or close to the 22q.11.2 region. 22q11.2 is a chromosomal segment that undergoes a high rate of DNA translocation and is prone to genetic deletions. FAM230C-related genes present in other chromosomes do not carry the TBTA motif and were formed from the 5' half region of the FAM230C sequence. These findings identify a high specificity in lincRNA gene formation by gene sequence duplication in different chromosomes.

摘要

FAM230C 是人类 13 号染色体（chr13）上的一个长基因间非编码 RNA（lincRNA）基因，是称为家族与序列相似性 230 的 lincRNA 基因的成员。使用生物信息学搜索工具和比对程序进行了分析，以确定 FAM230C 及其相关基因的特性。结果表明，DNA 易位元件，即 Translocation Breakpoint Type A（TBTA）序列，由卫星 DNA、Alu 元件和富含 AT 的序列组成，嵌入 FAM230C 基因中。与 FAM230C 相关的八个 lincRNA 基因也携带 TBTA 序列。这些基因是由 FAM230C 序列的 3' 端的大片段重复形成的，位于 chr22 中，并特别位于低拷贝重复（LCR22）区域内或附近，或靠近 22q.11.2 区域。22q11.2 是一个 DNA 易位率高且易发生遗传缺失的染色体片段。其他染色体上存在的 FAM230C 相关基因不携带 TBTA 基序，而是由 FAM230C 序列的 5' 端区域形成的。这些发现表明，在不同染色体上通过基因序列重复形成 lincRNA 基因具有高度特异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/8284a002c51a/pone.0195702.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/50493c06bb3d/pone.0195702.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/0f33d5874b2a/pone.0195702.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/15a302fa938b/pone.0195702.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/0f102ffc7fa5/pone.0195702.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/8284a002c51a/pone.0195702.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/50493c06bb3d/pone.0195702.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/0f33d5874b2a/pone.0195702.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/15a302fa938b/pone.0195702.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/0f102ffc7fa5/pone.0195702.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ae/5906017/8284a002c51a/pone.0195702.g005.jpg

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