The heterogeneous ribonucleoproteins (hnRNPs) are a family of nuclear RNA binding proteins with roles in nuclear RNA metabolism, including the regulation of pre-mRNA splicing. HnRNP GT is a testis-specific hnRNP, encoded by an autosomal retrogene (HNRNPGT) on human chromosome 11p15. Because of its testis-specific expression, defects in the HNRNPGT gene might play a role in human infertility. Sequence variations in this gene have been identified in men with impaired fertility, whilst the hnRNPGT protein is not expressed in men showing incomplete spermatogenesis. In this project we have tested the function of Hnrnpgt in mouse germ cell development by gene targeting.
Haploinsufficiency of Hnrnpgt results in abnormal sperm production in the mouse. Genetic defects resulting in reduced levels of HNRNPGT could, therefore, be a cause of male infertility in humans.
|Effective start/end date||1/03/02 → 31/08/02|