Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

ABSTRACT: The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD-associated mutations typically cause unstable mutant proteins involved in various steps of gene-expression, severely reducing steady-state mutant protein levels. However, to date, no such link to instability of gene expression factors for TTD-associated mutations in MPLKIP/TTDN1 has been established. Here, we present seven additional TTD individuals with MPLKIP mutations from five consanguineous families, with a newly identified MPLKIP variant in one family. By mass spectrometry-based interaction proteomics we demonstrate that MPLKIP interacts with core splicing f

SUBMITTER: Prof. Wim Vermeulen 

PROVIDER: S-SCDT-10_15252-EMMM_202317973 | biostudies-other |

REPOSITORIES: biostudies-other