Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
11
02
2022
accepted:
26
04
2022
pubmed:
11
5
2022
medline:
15
10
2022
entrez:
10
5
2022
Statut:
ppublish
Résumé
The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, altered PLK4 expression is associated with aneuploidy in human embryos. Here, we report on a consanguineous four-generation family with 8 affected individuals compound heterozygous for a novel missense variant, c.881 T > G, and a deletion of the PLK4 gene. The clinical phenotype of the adult patients is mild compared to individuals with previously described PLK4 mutations. One individual was homozygous for the variant c.881G and phenotypically unaffected. The deletion was inherited by 14 of 16 offspring and thus exhibits transmission ratio distortion (TRD). Moreover, based on the already published families with PLK4 mutations, it could be shown that due to the preferential transmission of the mutant alleles, the number of affected offspring is significantly increased. It is assumed that reduced expression of PLK4 decreases the intrinsically high error rate of the first cell divisions after fertilization, increases the number of viable embryos and thus leads to preferential transmission of the deleted/mutated alleles.
Identifiants
pubmed: 35536377
doi: 10.1007/s00439-022-02461-w
pii: 10.1007/s00439-022-02461-w
pmc: PMC9556372
doi:
Substances chimiques
Cell Cycle Proteins
0
PLK4 protein, human
EC 2.7.1.-
Protein Serine-Threonine Kinases
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1785-1794Subventions
Organisme : Higher Education Commision, Pakistan
ID : A/04/30796
Organisme : Deutsche Forschungsgemeinschaft
ID : NE 531/5-1
Organisme : Deutsche Forschungsgemeinschaft
ID : Collaboratve Research Center 577
Organisme : Deutsche Forschungsgemeinschaft
ID : Collaborative Research Center 1399
Informations de copyright
© 2022. The Author(s).
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