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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

Department of Molecular Genetics and Microbiology, School of Medicine, Stony Brook University, Stony Brook, New York, NY 11794-5222, USA
Non-Coding RNA 2018, 4(3), 16; https://doi.org/10.3390/ncrna4030016
Received: 5 July 2018 / Revised: 14 July 2018 / Accepted: 17 July 2018 / Published: 20 July 2018
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. View Full-Text
Keywords: formation of lincRNA genes; chromosomal low copy repeats; segmental duplications; 22q11.2; translocation breakpoint sequence; directed mutations; palindromic AT-repeats; human satellite 1; HSAT I; formation of RNA exons formation of lincRNA genes; chromosomal low copy repeats; segmental duplications; 22q11.2; translocation breakpoint sequence; directed mutations; palindromic AT-repeats; human satellite 1; HSAT I; formation of RNA exons
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Delihas, N. 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. Non-Coding RNA 2018, 4, 16.

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