Literature DB >> 2143747

Assignment of the gene for the small nuclear ribonucleoprotein E (SNRPE) to human chromosome 1q25-q43.

K Neiswanger1, D R Stanford, R S Sparkes, D Nishimura, T Mohandas, I Klisak, C Heinzmann, E D Wieben.   

Abstract

Small nuclear ribonucleoproteins (snRNPs), which are composed of various U RNAs and several proteins, are components of the mRNA splicing apparatus. The snRNP protein E is encoded by a multigene family which consists of a single expressed gene and several processed pseudogenes. We have used somatic cell hybridization, in situ hybridization, and linkage analysis to both physically and genetically map the expressed E protein gene to human chromosome 1q25-43, with the most probable location being band 1q32. In addition to the snRNP E protein gene, two other snRNP components--the U1 RNA true multigene family and a group of class I U1 pseudogenes--are located on human chromosome 1.

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Year:  1990        PMID: 2143747     DOI: 10.1016/0888-7543(90)90192-w

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

1.  An EcoO109 RFLP for the SNRPE gene on chromosome 1.

Authors:  B L Miller; D Y Nishimura; E D Wieben; J C Murray
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

2.  Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Authors:  Sandra M Pasternack; Melanie Refke; Elham Paknia; Hans Christian Hennies; Thomas Franz; Niklas Schäfer; Alan Fryer; Maurice van Steensel; Elizabeth Sweeney; Miquel Just; Clemens Grimm; Roland Kruse; Carlos Ferrándiz; Markus M Nöthen; Utz Fischer; Regina C Betz
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

3.  Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree.

Authors:  A Sander; H Moser; S Liechti-Gallati; T Grimm; M Zingg; J Raveh
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

4.  A U6 snRNA gene with an internal promoter is juxtaposed to an snRNP protein sequence within an intron of a human G protein gene.

Authors:  E D Wieben; A M Vrabel; E L Holicky; I Klisak; R S Sparkes; D R Stanford
Journal:  Nucleic Acids Res       Date:  1991-06-11       Impact factor: 16.971

5.  A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

Authors:  Tao Chen; Bin Zhang; Thomas Ziegenhals; Archana B Prusty; Sebastian Fröhler; Clemens Grimm; Yuhui Hu; Bernhard Schaefke; Liang Fang; Min Zhang; Nadine Kraemer; Angela M Kaindl; Utz Fischer; Wei Chen
Journal:  PLoS Genet       Date:  2019-10-31       Impact factor: 5.917

  5 in total

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