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SEPT12 mutations cause male infertility with defective sperm annulus
Human mutation, 2012-04, Vol.33 (4), p.710-719
Kuo, Yung-Che
Lin, Ying-Hung
Chen, Hau-Inh
Wang, Ya-Yun
Chiou, Yu-Wei
Lin, Hsi-Hui
Pan, Hsien-An
Wu, Ching-Ming
Su, Shih-Ming
Hsu, Chao-Chin
Kuo, Pao-Lin
2012
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Kuo, Yung-Che
Lin, Ying-Hung
Chen, Hau-Inh
Wang, Ya-Yun
Chiou, Yu-Wei
Lin, Hsi-Hui
Pan, Hsien-An
Wu, Ching-Ming
Su, Shih-Ming
Hsu, Chao-Chin
Kuo, Pao-Lin
Titel
SEPT12 mutations cause male infertility with defective sperm annulus
Ist Teil von
Human mutation, 2012-04, Vol.33 (4), p.710-719
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2012
Quelle
MEDLINE
Beschreibungen/Notizen
Septins are members of the GTPase superfamily, which has been implicated in diverse cellular functions including cytokinesis and morphogenesis. Septin 12 (SEPT12) is a testis‐specific gene critical for the terminal differentiation of male germ cells. We report the identification of two missense SEPT12 mutations, c.266C>T/p.Thr89Met and c.589G>A/p.Asp197Asn, in infertile men. Both mutations are located inside the GTPase domain and may alter the protein structure as suggested by in silico modeling. The p.Thr89Met mutation significantly reduced guanosine‐5′‐triphosphate (GTP) hydrolytic activity, and the p.Asp197Asn mutation (SEPT12D197N) interfered with GTP binding. Both mutant SEPT12 proteins restricted the filament formation of the wild‐type SEPT12 in a dose‐dependent manner. The patient carrying SEPT12D197N presented with oligoasthenozoospermia, whereas the SEPT12T89M patient had asthenoteratozoospermia. The characteristic sperm pathology of the SEPT12D197N patient included defective annulus with bent tail and loss of SEPT12 from the annulus of abnormal sperm. Our finding suggests loss‐of‐function mutations in SEPT12 disrupted sperm structural integrity by perturbing septin filament formation. Hum Mutat 33:710–719, 2012. © 2012 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794
eISSN: 1098-1004
DOI: 10.1002/humu.22028
Titel-ID: cdi_proquest_miscellaneous_927990919
Format
–
Schlagworte
annulus
,
Asthenozoospermia - genetics
,
Case-Control Studies
,
filament formation
,
GTPase
,
Guanosine Triphosphate - metabolism
,
Humans
,
infertility
,
Infertility, Male - genetics
,
Male
,
Mutation, Missense
,
SEPT12
,
Septins - chemistry
,
Septins - genetics
,
Septins - metabolism
,
Sperm Motility - genetics
,
Spermatogenesis - genetics
,
Spermatozoa - abnormalities
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