[Genetics of male infertility: the new players].
Approximately 10-15% of couples experience infertility and male factors contribute to half of these cases. It was usually thought that infertility cannot be transmitted, but accumulating evidence indicates that many cases are indeed caused by genetic defects, some inherited. The use of single nucleotide polymorphisms (SNP) arrays allowing to genotype the totality of the genome recently led to identify several genes which, when mutated, generate specific infertility phenotypes. With the tremendous progresses in high throughput sequencing techniques, we can expect many more new genes involved in fertility to be identified in the next years. For the patients concerned, these findings mean the possibility of an accurate diagnosis and improved prognosis. Furthermore, these data will lead to a better understanding of the molecular mechanisms underlying spermatogenesis and thus should contribute to identify and offer new therapeutic strategies for the treatment of infertility.
Équipe génétique, infertilité et thérapeutiques, laboratoire AGIM (ageing, imaging and modeling), CNRS FRE3405, La Tronche, 38700, France.
Charles
C
Coutton
Véronique
V
Satre
Christophe
C
Arnoult
Pierre
P
Ray
D000818:Animals; D064127:Aurora Kinases; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D013091:Spermatogenesis / Q000235:genetics / Q000502:physiology
C511317:DPY19L2 protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D064127:Aurora Kinases; D017346:Protein Serine-Threonine Kinases