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Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Abstract：

:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozygosity-by-descent mapping. By sequencing one candidate gene within that region, POF1B, we identified a point mutation localized in exon 10. This substitution of a nucleotide (G-->A), at position 1123, results in an arginine-->glutamine mutation of the protein sequence at position 329 (mutation R329Q). All the affected family members were homozygous for the mutation, whereas the unaffected members were heterozygous. Because POF1B shares high homology with the tail portion of the human myosin, we assessed the ability of both wild-type and mutant POF1B proteins to bind nonmuscle actin filaments in vitro. We found that the capacity of the mutant protein to bind nonmuscle actin filaments was diminished fourfold compared with the wild type, suggesting a function of POF1B in germ-cell division. Our study suggests that a homozygous point mutation in POF1B influences the pathogenesis of POF by altering POF1B binding to nonmuscle actin filaments.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

doi

10.1086/505406

subject

Has Abstract

pub_date

2006-07-01 00:00:00

pages

113-9

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60012-3

journal_volume

79

pub_type

杂志文章

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