The human vigilin gene: identification, chromosomal localization and expression pattern
作者： Gabriele Plenz , Sebastian K�gler , Susanne Schnittger , Harald Rieder , Christa Fonatsch
DOI: 10.1007/BF00202827
关键词:
摘要: Chick vigilin cRNA clones were used to isolate the cognate human gene, by screening a pWE15 genomic library. Three independent cosmid isolated and characterized restriction mapping. The gene was identified sequencing an internal EcoRI fragment containing two exons homologous exon 24 25 of chicken corresponding nucleotides 1973–2104 HBP-cDNA. homology between sequences 77% 82% at cDNA level, 91% 100% amino acid level. In addition, analyzed intron/exon boundaries invariantly conserved. 5′ 3′ regions mapped Southern analysis respective with synthetic oligonucleotides. entire spans region about 50 kb has been assigned chromosome 2q36–q37.2 (FL-pter value 0.96 ± 0.03) fluorescence in situ hybridization metaphase spreads from normal peripheral blood lymphocytes. is localized chromosomal comprising cluster collagen genes (COLIVA3, COLVIA3) locus Waardenburg syndrome I. Only one mRNA species 4.4 transcribed gene. accordance previous observations on mRNA, expression depends stage cytodifferentiation both vitro situ.
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