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

Abstract：

: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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

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

doi

10.1007/s10038-007-0197-3

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

921-925

issue

11

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-007-0197-3

journal_volume

52

pub_type

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