Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
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.
Dam
Anika H D M
AH
Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Koscinski
Isabelle
I
Kremer
Jan A M
JA
Moutou
Celine
C
Jaeger
Anne-Sophie
AS
Oudakker
Astrid R
AR
Tournaye
Herman
H
Charlet
Nicolas
N
Lagier-Tourenne
Clotilde
C
van Bokhoven
Hans
H
Viville
Stephane
S
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics; D013094:Spermatozoa / Q000002:abnormalities*; D033921:Vesicular Transport Proteins
D018398:Homeodomain Proteins; C474264:SPATA16 protein, human; D033921:Vesicular Transport Proteins; D004247:DNA