![[feed]](/style/images/feed-icon-14x14.png){kind=icon}
Tools
Tools
Preview |
PDF (Original Article)
- Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
1MB |
Preview |
PDF (Supplementary Information)
- Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
666kB |
| Item Type: | Article |
|---|---|
| Title: | Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4 |
| Creators Name: | Neitzel, H., Varon, R., Chughtai, S., Dartsch, J., Dutrannoy-Tönsing, V., Nürnberg, P., Nürnberg, G., Schweiger, M., Digweed, M., Hildebrand, G., Hackmann, K., Holtgrewe, M., Sarioglu, N., Schulze, B., Horn, D. and Sperling, K. |
| Abstract: | 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. |
| Keywords: | Cell Cycle Proteins, Cell Division, Centrioles, Mutation, Protein Serine-Threonine Kinases |
| Source: | Human Genetics |
| ISSN: | 0340-6717 |
| Publisher: | Springer |
| Volume: | 141 |
| Number: | 11 |
| Page Range: | 1785-1794 |
| Number of Pages: | 10 |
| Date: | November 2022 |
| Official Publication: | https://doi.org/10.1007/s00439-022-02461-w |
| PubMed: | View item in PubMed |
Repository Staff Only: item control page
