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Fanconi Anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents. Recent studies suggest that FA proteins share a common pathway with BRCA proteins. To study thein vivorole of the FA group A gene (Fanca), gene-targeting techniques were used to generateFanca   tm1Hscmice in whichFancaexons 1–6 were replaced by a β-galactosidase reporter construct.Fanca   tm1.1Hscmice were generated by Cre-mediated removal of the neomycin cassette inFanca   tm1Hscmice.Fanca   tm1.1Hschomozygotes display FA-like phenotypes including growth retardation, microphthalmia and craniofacial malformations that are not found in otherFancamouse models, and the genetic background affects manifestation of certain phenotypes. Both male and female mice homozygous forFancamutation exhibit hypogonadism, and homozygous females demonstrate premature reproductive senescence and an increased incidence of ovarian cysts. We showed that fertility defects inFanca   tm1.1Hschomozygotes might be related to a diminished population of primordial germ cells (PGCs) during migration into the gonadal ridges. We also found a high level ofFancaexpression in pachytene spermatocytes.Fanca   tm1Hschomozygous males exhibited an elevated frequency of mispaired meiotic chromosomes and increased apoptosis in germ cells, implicating a role for Fanca in meiotic recombination. However, the localization of Rad51, Brca1, Fancd2 and Mlh1 appeared normal onFanca   tm1Hschomozygous meiotic chromosomes. Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination.

human molecular genetics

Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia