In:
EMBO Molecular Medicine, EMBO, Vol. 14, No. 12 ( 2022-12-07)
Abstract:
image Homozygous pathogenic variants in IQCN were identified in two male patients experiencing TFF. IQCN was found essential for regulating nucleation during microtubule assembly by interacting with calmodulin and calmodulin‐related binding proteins. The two affected individuals showed an increased proportion of sperm head malformations and characteristics of a ruffled acrosome. Abnormal acrosome caused aberrant oocyte activation factor PLCζ localization and TFF after ICSI. The phenotype of Iqcn‐knockout ( Iqcn −/− ) male mice is similar to that of the affected individuals. IQCN interacts with calmodulin to promote prolonged manchette assembly in spermatids, and the disappearance of this interaction leads to nucleation defects. IQCN‐related male infertility could be rescued by ICSI with assisted oocyte activation.
Type of Medium:
Online Resource
ISSN:
1757-4676
,
1757-4684
DOI:
10.15252/emmm.202216501
Language:
English
Publisher:
EMBO
Publication Date:
2022
detail.hit.zdb_id:
2485479-7
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