Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.

Abstract:

:Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with male infertility. In our previous study, we identified a homozygous CFAP43 splice-site variant, c.3661-2delA, in a patient with MMAF. However, the mutational effect of this variant was unknown. Here, using a minigene assay, we demonstrated that the c.3661-2delA variant may cause exon-30 to be skipped, thus generating the p.E1221_K1256del protein. By secondary and three-dimensional structural biology prediction analysis, we found that the mutant protein became 'tighter' in comparison with the wild-type protein, resulting in amino acid rearrangements in CFAP43 protein structure. We elucidated the molecular mechanism of the c.3661-2delA splice-site variant causing MMAF in the current study.

journal_name

Andrologia

journal_title

Andrologia

authors

Li L,Feng F,Wang Y,Guo J,Yue W

doi

10.1111/and.13575

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

e13575

issue

6

eissn

0303-4569

issn

1439-0272

journal_volume

52

pub_type

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