Identification of Small-sized Intrachromosomal Segments at the Ends of INV-DUP-DEL Patterns

Overview

Journal J Hum Genet

Specialty Genetics

Date 2023 Jul 9

PMID 37423943

Authors

Keiko Shimojima Yamamoto

Takeaki Tamura

Nobuhiko Okamoto

Eriko Nishi

Atsuko Noguchi

Ikuko Takahashi

Yukio Sawaishi

Masaki Shimizu

Hitoshi Kanno

Yohei Minakuchi

Atsushi Toyoda

Toshiyuki Yamamoto

Affiliations

Soon will be listed here.

Abstract

The mechanism of chromosomal rearrangement associated with inverted-duplication-deletion (INV-DUP-DEL) pattern formation has been investigated by many researchers, and several possible mechanisms have been proposed. Currently, fold-back and subsequent dicentric chromosome formation has been established as non-recurrent INV-DUP-DEL pattern formation mechanisms. In the present study, we analyzed the breakpoint junctions of INV-DUP-DEL patterns in five patients using long-read whole-genome sequencing and detected 2.2-6.1 kb copy-neutral regions in all five patients. At the end of the INV-DUP-DEL, two patients exhibited chromosomal translocations, which are recognized as telomere capture, and one patient showed direct telomere healing. The remaining two patients had additional small-sized intrachromosomal segments at the end of the derivative chromosomes. These findings have not been previously reported but they may only be explained by the presence of telomere capture breakage. Further investigations are required to better understand the mechanisms underlying this finding.

Citing Articles

A unifying model that explains the origins of human inverted copy number variants.

Brewer B, Dunham M, Raghuraman M PLoS Genet. 2024; 20(1):e1011091.

PMID: 38175827 PMC: 10766186. DOI: 10.1371/journal.pgen.1011091.

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