title: The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction.
abstract: The highly conserved Nanos gene was found to encode a translational repressor necessary for germ-cell development in lower organisms. The mammalian homologue, Nanos2, was recently found to be expressed in the mouse germ cells. Since its disruption caused infertility exclusively in males, we sought to study the significance of this gene in human male reproduction. Here, we describe for the first time the expression pattern of the NANOS2 gene in human tissues and show that it is testis specific. We found that NANOS2 protein is present in prenatal germ cells and at later stages in spermatogenesis. To elucidate the role of NANOS2 in human germ-line development, we screened this gene for mutations in 214 males with isolated sterility and spermatogenic abnormalities. We identified two heterozygous variants, each in a different oligospermic patient, the second allele being the wild-type. The influence of the first variant, a missense mutation H68Q on the sterility phenotype, was not obvious since it was accompanied by a microdeletion within the AZF region of the Y chromosome. The second variant contained a silent mutation, H109H. Although both mutations were situated within the most conserved RNA-binding domain and were absent in 400 fertile males, it is not obvious that they cause male infertility.
authors.affiliation: Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
authors.forename: K M
authors.initials: KM
authors.lastname: Kusz
authors.forename: L
authors.initials: L
authors.lastname: Tomczyk
authors.forename: M
authors.initials: M
authors.lastname: Sajek
authors.forename: A
authors.initials: A
authors.lastname: Spik
authors.forename: A
authors.initials: A
authors.lastname: Latos-Bielenska
authors.forename: P
authors.initials: P
authors.lastname: Jedrzejczak
authors.forename: L
authors.initials: L
authors.lastname: Pawelczyk
authors.forename: J
authors.initials: J
authors.lastname: Jaruzelska
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D015152:Blotting, Northern; D015153:Blotting, Western; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D005786:Gene Expression Regulation; D006801:Humans; D007150:Immunohistochemistry; D066298:In Vitro Techniques; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D052247:Nitric Oxide Synthase Type II / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012098:Reproduction / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013737:Testis / Q000378:metabolism*
chemical_list: D002352:Carrier Proteins; C496319:NOS2 protein, human; D052247:Nitric Oxide Synthase Type II