Mutation in
genome-wide
linkage
molecular genetics
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 Jun 2020
05 Jun 2020
Historique:
received:
03
01
2020
revised:
01
04
2020
accepted:
08
04
2020
entrez:
7
6
2020
pubmed:
7
6
2020
medline:
7
6
2020
Statut:
aheadofprint
Résumé
Oligoteratoasthenozoospermia (OTA) combines deteriorated quantity, morphology and motility of the sperm, resulting in male factor infertility. We used whole genome genotyping and exome sequencing to identify the mutation causing OTA in four men in a consanguineous Bedouin family. We expressed the normal and mutated proteins tagged with c-Myc at the carboxy termini by transfection with pCDNA3.1 plasmid constructs to evaluate the effects on protein stability in HEK293 cells and on the kinetics of actin repolymerisation in retinal pigment epithelium cells. Patients' sperm samples were visualised by transmission electron microscopy to determine axoneme structures and were stained with fluorescent phalloidin to visualise the fibrillar (F)-actin. A homozygous missense mutation in Ciliogenesis Associated TTC17 Interacting Protein ( This is the first report of a recessive mutation in
Sections du résumé
BACKGROUND
BACKGROUND
Oligoteratoasthenozoospermia (OTA) combines deteriorated quantity, morphology and motility of the sperm, resulting in male factor infertility.
METHODS
METHODS
We used whole genome genotyping and exome sequencing to identify the mutation causing OTA in four men in a consanguineous Bedouin family. We expressed the normal and mutated proteins tagged with c-Myc at the carboxy termini by transfection with pCDNA3.1 plasmid constructs to evaluate the effects on protein stability in HEK293 cells and on the kinetics of actin repolymerisation in retinal pigment epithelium cells. Patients' sperm samples were visualised by transmission electron microscopy to determine axoneme structures and were stained with fluorescent phalloidin to visualise the fibrillar (F)-actin.
RESULTS
RESULTS
A homozygous missense mutation in Ciliogenesis Associated TTC17 Interacting Protein (
CONCLUSION
CONCLUSIONS
This is the first report of a recessive mutation in
Identifiants
pubmed: 32503832
pii: jmedgenet-2019-106825
doi: 10.1136/jmedgenet-2019-106825
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.