Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.

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Tác giả: Anne S Bassett, Jeroen Breckpot, Ruben Cools, Koen Devriendt, Nicolas Dierckxsens, Beverly S Emanuel, Tracy Heung, Donna M McDonald-McGinn, Senne Meynants, Hilde Peeters, Erika Souche, Marta Sousa Santos, Ann Swillen, Hilde Van Esch, Joris R Vermeesch, Lisanne Vervoort

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Genome research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 700076

The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short-read sequencing cannot resolve the complex segmental duplications (SDs) to provide direct confirmation of the hypothesis that the rearrangements are caused by nonallelic homologous recombination between the low copy repeats on Chromosome 22 (LCR22s). To enable haplotype-specific assembly and rearrangement mapping in LCR22 clusters, we combined fiber-FISH optical mapping with whole-genome (ultra-)long-read sequencing or rearrangement-specific long-range PCR on 25 families comprising several different LCR22-mediated rearrangements. We demonstrate that not only different paralogous SDs but also palindromic AT-rich repeats (PATRR) within LCR22s are driving 22q11.2 rearrangements. In addition, we show the existence of two different inversion polymorphisms preceding rearrangement, and somatic mosaicism. The existence of different recombination sites and mechanisms in paralogs and PATRRs, which are copy number expanding in the human population, is a likely contributor for the high 22q11.2DS incidence.
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