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A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
Francesca Antonacci1, Jeffrey M Kidd, Tomas Marques-Bonet
1Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Nature Genetics
|August 24, 2010
Summary
Human genome analysis reveals a large inverted region on chromosome 16p12.1, linked to neurocognitive disorders. This structural variation, caused by rapid segmental duplications, predisposes chromosomes to disease-associated rearrangements.
Area of Science:
- Genomics
- Human Genetics
- Evolutionary Biology
Background:
- Segmental duplications and genomic rearrangements are complex and linked to human diseases.
- The 16p12.1 region of chromosome 16 is associated with neurocognitive disease.
Purpose of the Study:
- To analyze the structural variations in the 16p12.1 region.
- To understand the evolutionary history and disease implications of these variations.
Main Methods:
- Detailed genomic analysis of the 16p12.1 region.
- Comparative analysis of human reference genome assembly and diverse human samples.
- Population frequency analysis of identified structural configurations.
Main Results:
- Identified a 1.1-Mb region on chromosome 16p12.1 that is homozygously inverted in all examined humans compared to the reference genome.
- Discovered two common structural configurations (S1 and S2) with worldwide frequencies of 17.6% and 82.4%, respectively.
- Determined that this polymorphism resulted from rapid segmental duplication integration and two inversions within the last 10 million years.
- Found that the S2 configuration contains additional duplicated sequences and directly oriented duplications, increasing susceptibility to disease-associated rearrangements.
Conclusions:
- The 16p12.1 region exhibits significant structural polymorphism due to rapid evolution.
- The S2 configuration, prevalent in human populations, carries structural features that predispose it to disease-associated rearrangements, particularly neurocognitive disorders.
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