Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

The genetic architecture of morphological abnormalities of the sperm tail

A Touré, G Martinez, ZE Kherraf, C Cazin, J Beurois… - Human Genetics, 2021 - Springer
Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …

Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility

C Liu, H Miyata, Y Gao, Y Sha, S Tang, Z Xu… - The American Journal of …, 2020 - cell.com
Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …

The role of genetics and oxidative stress in the etiology of male infertility—a unifying hypothesis?

RJ Aitken, MA Baker - Frontiers in Endocrinology, 2020 - frontiersin.org
Despite the high prevalence of male infertility, very little is known about its etiology. In recent
years however, advances in gene sequencing technology have enabled us to identify a …

Genetic underpinnings of asthenozoospermia

C Tu, W Wang, T Hu, G Lu, G Lin, YQ Tan - Best Practice & Research …, 2020 - Elsevier
Asthenozoospermia (AZS), defined by reduced motility or absent sperm motility, is one of the
main causes of male infertility. This condition may be divided into isolated AZS in the …

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

MS Oud, BJ Houston, L Volozonoka… - Human …, 2021 - academic.oup.com
STUDY QUESTION What are the causative genetic variants in patients with male infertility
due to severe sperm motility disorders? SUMMARY ANSWER We identified high confidence …

Identifying pleiotropic variants and candidate genes for fertility and reproduction traits in Holstein cattle via association studies based on imputed whole-genome …

SY Chen, FS Schenkel, ALP Melo, HR Oliveira… - BMC genomics, 2022 - Springer
Background Genetic progress for fertility and reproduction traits in dairy cattle has been
limited due to the low heritability of most indicator traits. Moreover, most of the quantitative …

Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature

J Wang, W Wang, L Shen, A Zheng, Q Meng, H Li… - Frontiers in …, 2022 - frontiersin.org
Sperm carries male genetic information, and flagella help move the sperm to reach oocytes.
When the ultrastructure of the flagella is abnormal, the sperm is unable to reach the oocyte …

Multiomics analysis of male infertility

X Wu, L Zhou, J Shi, CY Cheng, F Sun - Biology of reproduction, 2022 - academic.oup.com
Abstract Infertility affects 8–12% of couples globally, and the male factor is a primary cause
in~ 50% of couples. Male infertility is a multifactorial reproductive disorder, which can be …

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

J Zhang, X He, H Wu, X Zhang, S Yang… - Human molecular …, 2021 - academic.oup.com
Motile cilia and flagellar defects can result in primary ciliary dyskinesia, which is a
multisystemic genetic disorder that affects roughly 1: 10 000 individuals. The nexin-dynein …