Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10375532" target="_blank" >RIV/00216208:11110/18:10375532 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/18:10375532 RIV/00064203:_____/18:10375532 RIV/00064165:_____/18:10375532

Result on the web

<a href="https://doi.org/10.1002/humu.23408" target="_blank" >https://doi.org/10.1002/humu.23408</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/humu.23408" target="_blank" >10.1002/humu.23408</a>

Result language

angličtina

Original language name

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Original language description

Analyses at nucleotide resolution reveal unexpected complexity of seemingly simple and balanced chromosomal rearrangements. Chromothripsis is a rare complex aberration involving local shattering of one or more chromosomes and reassembly of the resulting DNA segments. This can influence gene expression and cause abnormal phenotypes. We studied the structure and mechanism of a seemingly balanced de novo complex rearrangement of four chromosomes in a boy with developmental and growth delay. Microarray analysis revealed two paternal de novo deletions of 0.7 and 2.5 Mb at two of the breakpoints in 1q24.3 and 6q24.1-q24.2, respectively, which could explain most symptoms of the patient. Subsequent whole-genome mate-pair sequencing confirmed the chromothriptic nature of the rearrangement. The four participating chromosomes were broken into 29 segments longer than 1 kb. Sanger sequencing of all breakpoint junctions revealed additional complexity compatible with the involvement of different repair pathways. We observed translocation of a 33 bp long DNA fragment, which may have implications for the definition of the lower size limit of structural variants. Our observations and literature review indicate that even very small fragments from shattered chromosomes can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10600 - Biological sciences

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

—

Volume of the periodical

39

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

709-716

UT code for WoS article

000433600000010

EID of the result in the Scopus database

2-s2.0-85042196690