AFX1 and p54(nrb): fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism

被引：20

作者：

Peters, U ^{[1
]}

Haberhausen, G ^{[1
]}

Kostrzewa, M ^{[1
]}

Nolte, D ^{[1
]}

Muller, U ^{[1
]}

机构：

[1] UNIV GIESSEN,INST HUMANGENET,D-35392 GIESSEN,GERMANY

来源：

HUMAN GENETICS | 1997年 / 100卷 / 5-6期

关键词：

D O I：

10.1007/s004390050553

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have mapped AFX1 and p54(nrb) to a yeast artificial chromosome (YAC) contig of Xq13.1 that harbors the X-linked dystonia parkinsonism (XDP) locus DYT3. AFX1 is flanked by loci DXS7116 and Il2R gamma, and p54(nrb) by loci DXS6673E and DXS7120. The exon-intron structure of both genes was analyzed. AFX1 is composed of three exons with most of exon 3 being untranslated. p54(nrb) is made up of 12 exons ranging in size from 40 bp to 1227 bp. The start codon is in exon 3 and the stop codon in exon 12. Both genes are expressed in the brain, among other tissues. AFX1 and p54(nrb) were excluded as candidates of DYT3 by sequencing of the exons and the flanking intronic sequences in an XDP patient and a control, and by Northern blot analysis.

引用

页码：569 / 572

页数：4

共 13 条

[1] PURIFICATION AND CDNA CLONING OF HELA-CELL P54(NRB), A NUCLEAR-PROTEIN WITH 2 RNA RECOGNITION MOTIFS AND EXTENSIVE HOMOLOGY TO HUMAN SPLICING FACTOR PSF AND DROSOPHILA NONA/BJ6 [J].