Mutations of the GREAT gene cause cryptorchidism.

  title={Mutations of the GREAT gene cause cryptorchidism.},
  author={Ivan P. Gorlov and Aparna A. Kamat and Natalia V. Bogatcheva and Eric Jones and Dolores J Lamb and Anne Truong and Colin Edward Bishop and Ken Mcelreavey and Alexander I. Agoulnik},
  journal={Human molecular genetics},
  volume={11 19},
In humans, failure of testicular descent (cryptorchidism) is one of the most frequent congenital malformations, affecting 1-3% of newborn boys. The clinical consequences of this abnormality are infertility in adulthood and a significantly increased risk of testicular malignancy. Recently, we described a mouse transgene insertional mutation, crsp, causing high intraabdominal cryptorchidism in homozygous males. A candidate gene Great (G-protein-coupled receptor affecting testis descent), was… CONTINUE READING


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