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Investigation of the origins of human autosomal inversions

Investigation of the origins of human autosomal inversions
Investigation of the origins of human autosomal inversions
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
population, inversion, chromosome, chromosomes, analysis, gene deletion, genetic, pair 5, pair 14, dna, laboratories, humans, time, haplotypes, genetics, cytogenetic analysis, chromosome mapping, comparative study, recombination, human, combination, chromosome breakage, pair 10
0340-6717
607-616
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Bryant, V.
9839ef00-aeaa-497b-ac7a-f16670a0fced
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Cockwell, A.E.
93580166-ddfd-4522-9b18-1919fd983d4d
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Bryant, V.
9839ef00-aeaa-497b-ac7a-f16670a0fced
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Cockwell, A.E.
93580166-ddfd-4522-9b18-1919fd983d4d
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49

Thomas, N.S., Bryant, V., Maloney, V., Cockwell, A.E. and Jacobs, P.A. (2008) Investigation of the origins of human autosomal inversions. Human Genetics, 123 (6), 607-616. (doi:10.1007/s00439-008-0510-z).

Record type: Article

Abstract

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

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More information

Published date: 2008
Keywords: population, inversion, chromosome, chromosomes, analysis, gene deletion, genetic, pair 5, pair 14, dna, laboratories, humans, time, haplotypes, genetics, cytogenetic analysis, chromosome mapping, comparative study, recombination, human, combination, chromosome breakage, pair 10

Identifiers

Local EPrints ID: 60312
URI: http://eprints.soton.ac.uk/id/eprint/60312
ISSN: 0340-6717
PURE UUID: 5936ed25-c966-4178-a3e0-028f0f08b0e1

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Date deposited: 11 Sep 2008
Last modified: 15 Mar 2024 11:19

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Contributors

Author: N.S. Thomas
Author: V. Bryant
Author: V. Maloney
Author: A.E. Cockwell
Author: P.A. Jacobs

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