May 30, 2009

Duplication hotspots, rare genomic disorders, and common disease

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

Abstract

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

References

  • References49
  • Citations116

Citations

Mentioned in this Paper

Genome
Schizophrenia
3q29
Segmental Duplications, Genomic
Pathogenic Organism
Epilepsy
Inversion Mutation Abnormality
UFL1 gene
Gene Deletion Abnormality
Shprintzen Syndrome

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Heather C Mefford
The New England Journal of Medicine
Heather C MeffordEvan E Eichler
© 2020 Meta ULC. All rights reserved