|
| Status |
Public on Jan 01, 2011 |
| Title |
Gene expression profiling of Golabi-Ito-Hall derived lymphoblast cells compared to a matched healthy person |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology.
|
| |
|
| Overall design |
Four replicates were obtained from one lymphoblast cell line derived from a patient with Golabi-Ito-Hall syndrome, labeled as GIH. Four replicates were obtained from one lymphoblast cell line derived from a matched healthy person and is indicated as control.
|
| |
|
| Contributor(s) |
Nicolaescu E, Beullens M, Andries M, Van Eynde A, Froyen G, Schwartz C, Stamm S, Bollen M |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jan 04, 2010 |
| Last update date |
Jan 23, 2019 |
| Contact name |
Rekin's Janky |
| E-mail(s) |
Nucleomics.Bioinformatics@vib.be
|
| Organization name |
VIB
|
| Department |
Nucleomics Core
|
| Street address |
Herestraat 49 Box 816
|
| City |
Leuven |
| ZIP/Postal code |
B-3000 |
| Country |
Belgium |
| |
|
| Platforms (1) |
| GPL6480 |
Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Probe Name version) |
|
| Samples (4)
|
|
| Relations |
| BioProject |
PRJNA121923 |
Less...
More...