Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.
Andrologia
; 52(6): e13575, 2020 Jul.
Article
em En
| MEDLINE
| ID: mdl-32207550
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cauda do Espermatozoide
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Infertilidade Masculina
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Proteínas dos Microtúbulos
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article