Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation Among Northern Europeans

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2006 Apr 28

PMID 16642442

Citations 10

Authors

Mette Gilling

Jorn S Dullinger

Stefan Gesk

Simone Metzke-Heidemann

Reiner Siebert

Thomas Meyer

Karen Brondum-Nielsen

Niels Tommerup

Hans-Hilger Ropers

Zeynep Tumer

Vera M Kalscheuer

N Simon Thomas

Affiliations

Soon will be listed here.

Abstract

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and sequencing of the junction fragments on 10p11 and 10q21 revealed that neither inversion breakpoint directly involved any genes or repetitive sequences, although both breakpoint regions contain a number of repeats. All 20 apparently unrelated inv(10) families in our study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.

Citing Articles

Fertility problems in males carrying an inversion of chromosome 10.

Zhang X, Shi Q, Liu Y, Jiang Y, Yang X, Liu R Open Med (Wars). 2021; 16(1):316-321.

PMID: 33681470 PMC: 7917366. DOI: 10.1515/med-2021-0240.

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski C, Wincent J, Eisfeldt J, Breman A, Cheung S Hum Mutat. 2020; 41(11):1979-1998.

PMID: 32906200 PMC: 7702065. DOI: 10.1002/humu.24106.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M Mol Cytogenet. 2014; 7:51.

PMID: 25411581 PMC: 4236861. DOI: 10.1186/1755-8166-7-51.

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Minocherhomji S, Hansen C, Kim H, Mang Y, Bak M, Guldberg P Hum Mol Genet. 2014; 23(23):6163-76.

PMID: 24986922 PMC: 4222360. DOI: 10.1093/hmg/ddu337.

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

Aguado C, Gaya-Vidal M, Villatoro S, Oliva M, Izquierdo D, Giner-Delgado C PLoS Genet. 2014; 10(3):e1004208.

PMID: 24651690 PMC: 3961182. DOI: 10.1371/journal.pgen.1004208.

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