Document Detail

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
MedLine Citation:
PMID:  17284672     Owner:  NLM     Status:  MEDLINE    
Low copy repeats (LCRs; segmental duplications) constitute approximately 5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal rearrangements responsible for many genomic disorders. The 22q11.2 region is susceptible to recurrent and nonrecurrent deletions, duplications as well as translocations that are mediated by LCRs termed LCR22s. One particular DNA structural element, a palindromic AT-rich repeat (PATRR) present within LCR22-3a, is responsible for translocations. Similar AT-rich repeats are present within the two largest LCR22s, LCR22-2 and LCR22-4. We provide direct sequence evidence that the AT-rich repeats have altered LCR22 organization during primate evolution. The AT-rich repeats are surrounded by a subtype of human satellite I (HSAT I), and an AluSc element, forming a 2.4-kb tripartite structure. Besides 22q11.2, FISH and PCR mapping localized the tripartite repeat within heterochromatic, unsequenced regions of the genome, including the pericentromeric regions of the acrocentric chromosomes and the heterochromatic portion of Yq12 in humans. The repeat is also present on autosomes but not on chromosome Y in other hominoid species, suggesting that it has duplicated on Yq12 after speciation of humans from its common ancestor. This demonstrates that AT-rich repeats have shaped or altered the structure of the genome during evolution.
Melanie Babcock; Svetlana Yatsenko; Pawel Stankiewicz; James R Lupski; Bernice E Morrow
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2007-02-06
Journal Detail:
Title:  Genome research     Volume:  17     ISSN:  1088-9051     ISO Abbreviation:  Genome Res.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-03     Completed Date:  2007-06-11     Revised Date:  2013-06-06    
Medline Journal Info:
Nlm Unique ID:  9518021     Medline TA:  Genome Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  451-60     Citation Subset:  IM    
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
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MeSH Terms
AT Rich Sequence*
Base Sequence
Chromosome Aberrations
Chromosome Disorders / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, Y / genetics*
Gene Duplication
Genome, Human
In Situ Hybridization, Fluorescence
Repetitive Sequences, Nucleic Acid
Grant Support
Reg. No./Substance:

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