Two different forms of palindrome resolution in the human genome: deletion or translocation

Human Molecular Genetics
Takema KatoHiroki Kurahashi

Abstract

Regions containing palindromic sequence are known to be susceptible to genomic rearrangement in prokaryotes and eukaryotes. Palindromic AT-rich repeats (PATRR) are hypervariable in the human genome, manifesting size polymorphisms and a propensity to rearrange. Size variations are mainly the result of internal deletions, while two PATRRs on 11q23 and 22q11 (PATRR11 and 22) contribute to generation of the t(11;22), a recurrent constitutional translocation. In this study, we analyzed the PATRR11 sequence of numerous polymorphic alleles in detail. Various types of shorter variants are likely derived from the most frequent approximately 450 bp PATRR11 by deletion. Deletion variants possess a significant number of identical nucleotides at their two endpoints, indicating the possible involvement of direct repeats within the PATRR11. Rare variants with insertional alterations involve AT-rich sequences of unknown origin. This is in contrast to palindrome-mediated translocations between PATRRs that manifest smaller deletions and only a limited number of identical nucleotides at the breakpoints. Further, we identified a rare translocation product that has a non-AT-rich insertion of a transcribed gene segment at the translocation breakpoin...Continue Reading

Citations

Apr 14, 2011·Human Reproduction Update·F PellestorP Sarda
Nov 15, 2011·Nucleic Acids Research·Maarten HolkersManuel A F V Gonçalves
Feb 28, 2009·Prenatal Diagnosis·Daniela GiardinoLeda Dalprà
Dec 6, 2014·Molecular Cytogenetics·Divya MishraHiroki Kurahashi
Mar 10, 2012·Current Opinion in Genetics & Development·Takema KatoBeverly S Emanuel
Apr 18, 2009·Journal of Human Genetics·Hiroki KurahashiTamae Ohye
Sep 5, 2019·Genome Research·Wolfram DemaerelJoris R Vermeesch
Dec 2, 2020·Human Molecular Genetics·Sarah Correll-TashBeverly S Emanuel

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