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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

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 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.

Authors:
; ;  [1]
  1. Univ. of Geneva Medical School (Switzerland) [and others
Publication Date:
OSTI Identifier:
465961
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 33; Journal Issue: 2; Other Information: PBD: 15 Apr 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; DNA-CLONING; DNA SEQUENCING; GENETIC MAPPING; GENE REGULATION; GENE MUTATIONS; SPLICING; TRANSCRIPTION; HUMAN CHROMOSOME 21; MAN; HEREDITARY DISEASES; EPILEPSY; PHENOTYPE; DOWNS SYNDROME; COSMIDS; CONTIGS; FLUORESCENCE; IN-SITU HYBRIDIZATION; POLYMERASE CHAIN REACTION

Citation Formats

Lalioti, M.D., Rossier, C., and Antonarakis, S.E. 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. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0196.
Lalioti, M.D., Rossier, C., & Antonarakis, S.E. 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. United States. doi:10.1006/geno.1996.0196.
Lalioti, M.D., Rossier, C., and Antonarakis, S.E. Mon . "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". United States. doi:10.1006/geno.1996.0196.
@article{osti_465961,
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},
author = {Lalioti, M.D. and Rossier, C. and Antonarakis, S.E.},
abstractNote = {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.},
doi = {10.1006/geno.1996.0196},
journal = {Genomics},
number = 2,
volume = 33,
place = {United States},
year = {Mon Apr 15 00:00:00 EDT 1996},
month = {Mon Apr 15 00:00:00 EDT 1996}
}