UNIGE document Scientific Article
previous document  unige:8843  next document
add to browser collection
Title

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

Authors
Lalioti, M. D.
Gos, A.
Green, M. R.
Published in Genomics. 1996, vol. 33, no. 2, p. 298-300
Abstract 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 U2AF35 (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. (Nature 359: 380, 1992) contig, close to the cystathionine-beta-synthase gene (CBS) on 21q22.3. This localization was confirmed by PCR using oligonucleotides from the 3' UTR and by FISH. As U2AF1 associates 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.
Keywords Base SequenceChromosomes, Human, Pair 21DNA PrimersDisease ProgressionEpilepsies, Myoclonic/geneticsHumansMolecular Sequence DataNuclear ProteinsRibonucleoprotein, U2 Small Nuclear/ metabolismRibonucleoproteins/ genetics
Identifiers
PMID: 8660980
Full text
Article - document accessible for UNIGE members only Limited access to UNIGE
Structures
Citation
(ISO format)
LALIOTI, M. D. et al. 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. In: Genomics, 1996, vol. 33, n° 2, p. 298-300. https://archive-ouverte.unige.ch/unige:8843

197 hits

0 download

Update

Deposited on : 2010-07-12

Export document
Format :
Citation style :