Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions.

Nicholas Delihas

doi:10.3390/ncrna4030016

Abstract

A family of long intergenic noncoding RNA (lincRNA) genes, FAM230 is formed via gene sequence duplication, specifically in human chromosomal low copy repeats (LCR) or segmental duplications. This is the first group of lincRNA genes known to be formed by segmental duplications and is consistent with current views of evolution and the creation of new genes via DNA low copy repeats. It appears to be an efficient way to form multiple lincRNA genes. But as these genes are in a critical chromosomal region with respect to the incidence of abnormal translocations and resulting genetic abnormalities, the 22q11.2 region, and also carry a translocation breakpoint motif, several intriguing questions arise concerning the presence and function of the translocation breakpoint sequence in RNA genes situated in LCR22s.

Highlights

A family of long intergenic noncoding RNA genes, FAM230 is formed via gene sequence duplication, in human chromosomal low copy repeats (LCR) or segmental duplications
We concentrate on duplications that occurred in chromosomal low copy repeats (LCR22) in chromosome 22 [14,15,16] that are in or close to the 22q11.2 chromosomal region
LCR22s provide the means for formation of multiple long intergenic noncoding RNA (lincRNA) genes, 22q11.2 is a critical chromosomal region, prone to deletions that are mediated by LCR22s and result in genetic disorders such as DiGeorge Syndrome and velo-cardio-facial syndrome [14,15,17]

Summary

Translocation breakpoint type

A motif and its relatedsequences translocation breakpoint sequences haveDNA been type. A motif and its related translocation breakpoint have been shown to undergo shown to undergo. DNA stand breakage via palindromic hot spot stem loop structures and stand breakage via palindromic hot spot stem loop structures and cruciforms leading to chromosomal cruciforms leading to chromosomal translocation [19,20,21]. An gene that is antisense to AP000552.1. ENSG00000206142 (one of the eight genes), and it does not harbor theTBTA. Expression from these genes is varied, with some such as chr (Figure 1). RNA expression from these genes is varied, with some such as DUXAP9. DUXAP9 that shows expression in multiple tissues That shows RNA expression in multiple tissues

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