Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

• Published in: American journal of human genetics Vol. 81; no. 4; pp. 813 - 820
• Main Authors: Dam, Anika H.D.M., Koscinski, Isabelle, Kremer, Jan A.M., Moutou, Céline, Jaeger, Anne-Sophie, Oudakker, Astrid R., Tournaye, Herman, Charlet, Nicolas, Lagier-Tourenne, Clotilde, van Bokhoven, Hans, Viville, Stéphane
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.10.2007; University of Chicago Press; Elsevier (Cell Press); American Society of Human Genetics
• Subjects: Amino Acid Sequence; Base Sequence; Biochemistry, Molecular Biology; Biological and medical sciences; Birth control; DNA; DNA - genetics; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Haplotypes; Homeodomain Proteins; Homeodomain Proteins - genetics; Homozygote; Humans; Infertility, Male; Infertility, Male - genetics; Infertility, Male - pathology; Life Sciences; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular biology; Mutation; Pedigree; Polymorphism, Single Nucleotide; Spermatogenesis; Spermatogenesis - genetics; Spermatozoa; Spermatozoa - abnormalities; Sterility. Assisted procreation; Human; Association; Genetics; Male sterility; Mutation; Homozygosity; Male genital diseases
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/521314

Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation.