Advances in the molecular genetic studies of acephalic spermatozoa syndrome

Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic mechanism of ASS remained unclarified for a long time until recent identification of the four ASS-as...

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Bibliographic Details
Published inZhonghua nan ke xue Vol. 25; no. 9; p. 838
Main Authors Li, Lin, Wang, Jing-Shang, Yin, Cheng-Hong, Yue, Wen-Tao
Format Journal Article
LanguageChinese
Published China 01.09.2019
Subjects
Cytoskeletal Proteins
Humans
Male
Membrane Proteins
Mutation
Nuclear Proteins
Spermatozoa - pathology
Teratozoospermia - genetics
TSGA10
gene mutation
acephalic spermatozoa syndrome
PMFBP1
whole-exome sequencing
SUN5
BRDT
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Summary:Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic mechanism of ASS remained unclarified for a long time until recent identification of the four ASS-associated genes SUN5, PMFBP1, TSGA10, and BRDT and their mutations due to the development of high-throughput sequencing technology. This review summarizes the advances in the genetic studies of ASS, focusing on its pathogenic molecular mechanisms, which provide an important basis for the molecular diagnosis of the disease as well as for assisted reproductive technology.
ISSN:1009-3591