 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Apr 30, 2024 |
| Title |
Mutational analysis of TLK1 and MDM1 |
| Organism |
Homo sapiens |
| Experiment type |
Other
|
| Summary |
The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism spectrum disorder (ASD) and microcephaly. Several TLK1 variants have been reported in NDDs but their functional significance is unknown. A male patient presenting with ID, seizures, global developmental delay, hypothyroidism, and primary immunodeficiency was determined to have a heterozygous TLK1 variant (c.1435C>G, p.Q479E), as well as a mutation in MDM1 (c.1197dupT, p.K400*). Cells expressing TLK1 p.Q479E exhibited reduced cytokine responses and elevated DNA damage, but not increased radiation sensitivity or DNA repair defects. The TLK1 p.Q479E variant impaired kinase activity but not proximal protein interactions.
|
| |
|
| Overall design |
duplicate PCR amplified regions of TLK1 or MDM1 from patient and sibling derived lymphoblastoid cell lines were compared.
|
| |
|
| Contributor(s) |
Stracker T |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Apr 30, 2024 |
| Last update date |
May 01, 2024 |
| Contact name |
Uma T Shankavaram |
| E-mail(s) |
uma@mail.nih.gov
|
| Phone |
301-496-6718
|
| Organization name |
NIH
|
| Department |
NCI
|
| Lab |
Radiation Oncology Branch
|
| Street address |
9000 Rockville Pike
|
| City |
Bethesda |
| State/province |
MD |
| ZIP/Postal code |
20892 |
| Country |
USA |
| |
|
| Platforms (1) |
|
| Samples (4)
|
|
| Relations |
| BioProject |
PRJNA1106510 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE266289_RAW.tar |
240.0 Kb |
(http)(custom) |
TAR (of VCF) |
SRA Run Selector |
| Raw data are available in SRA |
|
|
|
|
 |
Less...
More...