| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-149 |
Sentence |
denotes |
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. |
| T2 |
150-282 |
Sentence |
denotes |
The PQBP1 (polyglutamine tract-binding protein 1) gene encodes a nuclear protein that regulates pre-mRNA splicing and transcription. |
| T3 |
283-420 |
Sentence |
denotes |
Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome. |
| T4 |
421-600 |
Sentence |
denotes |
The missense mutation that causes this syndrome is unique among other PQBP1 mutations reported to date because it maps within a functional domain of PQBP1, known as the WW domain. |
| T5 |
601-731 |
Sentence |
denotes |
The mutation substitutes tyrosine 65 with cysteine and is located within the conserved core of aromatic amino acids of the domain. |
| T6 |
732-891 |
Sentence |
denotes |
We show here that the binding property of the Y65C-mutated WW domain and the full-length mutant protein toward its cognate proline-rich ligands was diminished. |
| T7 |
892-1064 |
Sentence |
denotes |
Furthermore, in Golabi-Ito-Hall-derived lymphoblasts we showed that the complex between PQBP1-Y65C and WBP11 (WW domain-binding protein 11) splicing factor was compromised. |
| T8 |
1065-1148 |
Sentence |
denotes |
In these cells a substantial decrease in pre-mRNA splicing efficiency was detected. |
| T9 |
1149-1404 |
Sentence |
denotes |
Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome. |
