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DUF1220 domains, cognitive disease, and human brain evolution.
1University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.
Cold Spring Harbor Symposia on Quantitative Biology
|October 24, 2009
Summary
Human brain size and cognitive disorders may be linked to DUF1220 gene copy number variations. Increased DUF1220 copies in humans may explain brain size evolution but also predispose to developmental disorders.
Area of Science:
- Genomics
- Evolutionary Biology
- Neuroscience
Background:
- The DUF1220 protein domain shows a significant copy number increase in the human lineage, suggesting a role in human adaptation.
- Copy-number variations (CNVs) in the 1q21.1 region, containing most DUF1220 sequences, are associated with cognitive dysfunction disorders.
Purpose of the Study:
- To investigate the relationship between DUF1220 copy number, 1q21.1 CNVs, and human brain size.
- To explore the potential role of DUF1220 in human brain evolution and associated developmental disorders.
Main Methods:
- Analysis of human genome sequences and copy-number variations in the 1q21.1 region.
- Correlation of 1q21.1 CNVs with human brain size and specific cognitive disorders.
Main Results:
- Disease-related 1q21.1 CNVs are directly associated with DUF1220 sequences.
- A dosage-dependent correlation exists between 1q21.1 CNVs and human brain size: deletions (microcephaly) and duplications (macrocephaly).
- Specific 1q21.1 CNVs are linked to opposing phenotypes: deletions with schizophrenia and smaller brain size, duplications with autism and larger brain size.
Conclusions:
- DUF1220 copy number variation may influence human brain size.
- The evolutionary expansion of DUF1220 may have increased genomic instability at 1q21.1, contributing to a spectrum of human brain and developmental disorders.
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