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Publications (5)
Cytosine base editing achieves C•G-to-T•A substitutions and can convert four codons (CAA/CAG/CGA/TGG) into STOP-codons (induction of STOP-codons, iSTOP) to knock out genes with reduced mosaicism. iSTOP enables direct phenotyping in founders’ somatic cells, but it remains unknown whether this works in founders’ germ cells so as to rapidly reveal nov...
STUDY QUESTION
Are there other pathogenic genes for asthenoteratozoospermia (AT)?
SUMMARY ANSWER
DNAH3 is a novel candidate gene for AT in humans and mice.
WHAT IS KNOWN ALREADY
AT is a major cause of male infertility. Several genes underlying AT have been reported; however, the genetic aetiology remains unknown in a majority of affected men.
ST...
Background
The sperm flagellum is an evolutionarily conserved specialized organelle responsible for sperm motility and male fertility. Deleterious mutations in genes involved in the sperm flagellum assembly can often cause sperm motility defects and male infertility. The murine Dnali1 gene encodes a protein that is known to interact with the cytopl...
During spermiogenesis, haploid spermatids undergo dramatic morphological changes to form slender sperm flagella and cap-like acrosomes, which are required for successful fertilization. Severe deformities in flagella cause a male infertility syndrome, multiple morphological abnormalities of the flagella (MMAF), while acrosomal hypoplasia in some cas...
Multiple Morphological Abnormalities of the Flagella (MMAF), a severe form of asthenozoospermia, can lead to male infertility. Recent studies have implicated an association between human CFAP70 deficiency and MMAF, however, the underlying biological mechanism and supporting experimental evidence in animal models remains unclear. To address this gap...