Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.

ABSTRACT: Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biological impacts of such abnormalities have seldomly been analyzed at the molecular level. Previously, we reported a Japanese female patient with severe developmental defects. The patient had an extra dicentric chromosome 21 (chr21) consisting of two partial chr21 copies fused together within their long arms along with two centromeres and many copy number changes. In this study, we performed whole-genome, transcriptional, and DNA methylation analyses, coupled with novel bioinformatic approaches, to reveal the complex structure of the extra chromosome and its transcriptional and epigenetic changes. Long-read sequencing accurately identified the structures of junctions related

SUBMITTER: Yoshida-Tanaka K 

PROVIDER: S-EPMC10449678 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature