May 30, 2009

Duplication hotspots, rare genomic disorders, and common disease

Current Opinion in Genetics & Development
Heather C Mefford, Evan E Eichler


The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hotspots and their association with both syndromic and nonsyndromic diseases. Studies of common complex genetic disease show that a subset of these recurrent events plays an important role in autism, schizophrenia, and epilepsy. The genomic hotspot model may provide a powerful approach for understanding the role of rare variants in common disease.

  • References49
  • Citations116


  • References49
  • Citations116


Mentioned in this Paper

Segmental Duplications, Genomic
Pathogenic Organism
Inversion Mutation Abnormality
UFL1 gene
Gene Deletion Abnormality
Shprintzen Syndrome

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