Document Detail

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.
MedLine Citation:
PMID:  17928950     Owner:  NLM     Status:  MEDLINE    
The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHOX2B in 13 de novo families with CCHS and found that 6 families were informative regarding a parental origin of polyalanine expansion, with all 6 mutants being of paternal origin. Four of them were also informative regarding a chromosomal event and their mutants were derived from unequal sister chromatid exchange. It is probable that de novo expansion of polyalanine repeats in CCHS results mainly from unequal sister chromatid exchange during spermatogenesis due to the secondary DNA structure of imperfect trinucleotide repeats encoding polyalanine tracts.
Hiroko Arai; Tesshu Otagiri; Ayako Sasaki; Taeko Hashimoto; Kazuo Umetsu; Katsushi Tokunaga; Kiyoshi Hayasaka
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-11
Journal Detail:
Title:  Journal of human genetics     Volume:  52     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2007  
Date Detail:
Created Date:  2007-10-25     Completed Date:  2008-01-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  921-5     Citation Subset:  IM    
Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
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MeSH Terms
Chromosome Mapping
Homeodomain Proteins / genetics*
Hypoventilation / congenital*
Peptides / genetics*
Sister Chromatid Exchange*
Transcription Factors / genetics*
Reg. No./Substance:
0/Homeodomain Proteins; 0/NBPhox protein; 0/Peptides; 0/Transcription Factors; 25191-17-7/polyalanine

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