De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Research Abstract Details 

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De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Abstract Text:

Hiroko Arai,Tesshu Otagiri,Ayako Sasaki,Taeko Hashimoto,Kazuo Umetsu,Katsushi Tokunaga,Kiyoshi Hayasaka,Hiroko Arai,Tesshu Otagiri,Ayako Sasaki,Taeko Hashimoto,Kazuo Umetsu,Katsushi Tokunaga,Kiyoshi Hayasaka,

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.

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Publishing Authors By Initials

H Arai,T Otagiri,A Sasaki,T Hashimoto,K Umetsu,K Tokunaga,K Hayasaka,H Arai,T Otagiri,A Sasaki,T Hashimoto,K Umetsu,K Tokunaga,K Hayasaka,

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De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of human genetics

VOLUME: 52

Page Numbers: 921-5

Journal Abbreviation: J. Hum. Genet.

ISSN: 1434-5161

DAY: 11

MONTH: 10

YEAR: 2007

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Information

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LANGUAGE: eng

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Grant and Affiliation Information for De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

AFFILIATION: Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

Country: Japan

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MEDLINETA: J Hum Genet

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