Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

ABSTRACT:

Propose

To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level.

Methods

To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells.

Results

Our data demonstrate that pathogenic variants in CCDC103 gene negatively affect gene and protein expression in both patients who presented absence of DA on their axonemes. Further, we firstly rep

SUBMITTER: Pereira R 

PROVIDER: S-EPMC6708006 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature