Document Detail


Investigation of the origins of human autosomal inversions.
MedLine Citation:
PMID:  18470537     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A significant proportion of both pericentric and paracentric inversions have recurrent breakpoints and so could either have arisen through multiple independent events or be identical by descent (IBD) with a single common ancestor. Of two common variant inversions previously studied, the inv(2)(p11q13) was genuinely recurrent while the inv(10)(p11.2q21.2) was IBD in all cases tested. Excluding these two variants we have ascertained 257 autosomal inversion probands at the Wessex Regional Genetics Laboratory. There were 104 apparently recurrent inversions, representing 35 different breakpoint combinations and we speculated that at least some of these had arisen on more than one occasion. However, haplotype analysis identified no recurrent cases among eight inversions tested, including the variant inv(5)(p13q13). The cases not IBD were shown to have different breakpoints at the molecular cytogenetic level. No crossing over was detected within any of the inversions and the founder haplotypes extended for variable distances beyond the inversion breakpoints. Defining breakpoint intervals by FISH mapping identified no obvious predisposing elements in the DNA sequence. In summary the vast majority of human inversions arise as unique events. Even apparently recurrent inversions, with the exception of the inv(2)(p12q13), are likely to be either derived from a common ancestor or to have subtly different breakpoints. Presumably the lack of selection against most inversions allows them to accumulate and disperse amongst different populations over time.
Authors:
N Simon Thomas; Victoria Bryant; Vivienne Maloney; Annette E Cockwell; Patricia A Jacobs
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Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2008-05-10
Journal Detail:
Title:  Human genetics     Volume:  123     ISSN:  1432-1203     ISO Abbreviation:  Hum. Genet.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-11     Completed Date:  2008-06-24     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  607-16     Citation Subset:  IM    
Affiliation:
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury SP2 8BJ, UK. Simon.Thomas@salisbury.nhs.uk
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MeSH Terms
Descriptor/Qualifier:
Chromosome Breakage
Chromosome Inversion*
Chromosome Mapping
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 5
Cytogenetic Analysis
Gene Deletion
Haplotypes
Humans
Recombination, Genetic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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