RAI1 is a novel polyglutamine encoding gene that is deleted in Smith–Magenis syndrome patients
- 1 May 2001
- journal article
- Published by Elsevier BV in Gene
- Vol. 270 (1-2), 69-76
- https://doi.org/10.1016/s0378-1119(01)00415-2
Abstract
The human chromosomal band 17p11.2 is a genetically unstable interval. It has been shown to be deleted in patients suffering from Smith–Magenis syndrome. Previous efforts of physical and transcriptional mapping in 17p11.2 and subsequent genomic sequencing of the candidate interval allowed the identification of new genes that might be responsible for the Smith–Magenis syndrome. In this report, one of these genes named RAI1, the human homologue of the mouse Rai1 gene, has been investigated for its contribution to the syndrome. Expression analysis on different human adult and fetal tissues has shown the existence of at least three splice variants. Moreover, the most interesting feature of the gene is the presence of a polymorphic CAG repeat coding for a polyglutamine stretch in the amino terminal domain of the protein.Keywords
This publication has 33 references indexed in Scilit:
- Transcription Mapping in a Medulloblastoma Breakpoint Interval and Smith–Magenis Syndrome Candidate Region: Identification of 53 Transcriptional Units and New Candidate GenesGenomics, 1999
- Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: Analysis of cell-cycle distribution and radiation sensitivityAmerican Journal of Medical Genetics, 1998
- Retinoic acid-induced asymmetric craniofacial growth and cleft palate in the to mouse fetusReproductive Toxicology, 1997
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNature Genetics, 1997
- Molecular Characterization of a Genetically Unstable Region Containing the SMS Critical Area and a Breakpoint Cluster for Human PNETsGenomics, 1997
- Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?American Journal of Medical Genetics, 1996
- Ordering of 66 STSs along the entire short arm of human chromosome 17 and chromosome assignment of a transcribed sequence (FMR1L2) homologous to FMR1Cytogenetic and Genome Research, 1996
- The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patientsHuman Molecular Genetics, 1995
- Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13Genomics, 1995
- Molecular cloning of androgen receptors from divergent species with a polymerase chain reaction technique: Complete cDNA sequence of the mouse androgen receptor and isolation of androgen recepter cDNA probes from dog, guinea pig and clawed frogBiochemical and Biophysical Research Communications, 1990