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Structural haplotypes and recent evolution of the human 17q21.31 region
Linda M Boettger1, Robert E Handsaker, Michael C Zody
1Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Nature Genetics
|July 4, 2012
Summary
Complex genomic regions like chromosome 17q21.31 harbor structural variations. Novel KANSL1 gene duplications in inversion forms H1 and H2 have rapidly increased in European populations.
Area of Science:
- Genomics
- Population Genetics
- Human Genetics
Background:
- Structurally complex genomic regions remain poorly understood.
- Human chromosome 17q21.31 is characterized by a large inversion polymorphism, numerous uncharacterized copy-number variations (CNVs), and associations with female fertility, meiotic recombination, and neurological disorders.
- The inverted H2 form of 17q21.31 exhibits positive selection in European populations.
Purpose of the Study:
- To develop a population genetics approach for analyzing complex genome structures.
- To identify and characterize structural variations within the 17q21.31 locus.
- To investigate the evolutionary history and frequency of different structural forms at 17q21.31.
Main Methods:
- Developed a novel population genetics approach to analyze complex genomic structures.
- Identified nine segregating structural forms of human chromosome 17q21.31.
- Utilized SNP imputation for analyzing complex genomic structures.
Main Results:
- Identified nine distinct structural forms of the 17q21.31 locus.
- Discovered independently derived, partial KANSL1 gene duplications within both H1 and H2 inversion forms of 17q21.31.
- Observed recent rapid increases in allele frequencies (26% and 19%) for these KANSL1 duplications in European populations, with an older H2 form lacking duplication found at low frequency in ancestral populations.
Conclusions:
- Complex genomic structures, such as the 17q21.31 locus, can be effectively analyzed using population genetics and SNP imputation.
- Recent positive selection and rapid frequency increase of KANSL1 gene duplications in European populations highlight their adaptive significance.
- The study provides new insights into the evolutionary dynamics and structural complexity of the human genome.
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