The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3
- Univ. of Geneva Medical School (Switzerland); and others
We used targeted exon trapping to clone portions of genes from human chromosome 21q22.3. One trapped sequence showed complete homology with the cDNA of human U2AF{sup 35} (M96982; HGM-approved nomenclature U2AF1), which encodes for the small 35-kDa subunit of the U2 snRNP auxiliary factor. Using the U2AF1 cDNA as a probe, we mapped this gene to cosmid Q15D2, a P1, and YAC 350F7 of the Chumakov et al. contig, close to the cystathionine-{beta}-synthase gene (CBS) on 21q22.3. This localization was confirmed by PCR using oligonucleotides from the 3{prime} UTR and by FISH. As U2AF1 associated with a number of different factors during mRNA splicing, overexpression in trisomy 21 individuals could contribute to some Down syndrome phenotypes by interfering with the splicing process. Furthermore, because this gene maps in the critical region for the progressive myoclonus epilepsy I locus (EPM1), mutation analysis will be carried out in patients to evaluate the potential role of U2AF1 as a candidate for EPM1. 24 refs., 1 fig.
- OSTI ID:
- 465961
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 33; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
Holoprosencephaly: Characterization of the deletion of 21q22.3 and isolation of cDNAs by a direct selection technique
Journal Article
·
Fri Sep 01 00:00:00 EDT 1995
· Genomics
·
OSTI ID:433318
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
Journal Article
·
Fri Jan 31 23:00:00 EST 1997
· American Journal of Human Genetics
·
OSTI ID:518513
Holoprosencephaly: Characterization of the deletion of 21q22.3 and isolation of cDNAs by a direct selection technique
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134498