AFX1和p54nrb：精细定位、基因组结构以及作为X连锁肌张力障碍帕金森综合征候选基因的排除

AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism.

作者信息

Peters U, Haberhausen G, Kostrzewa M, Nolte D, Müller U

机构信息

Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.

出版信息

Hum Genet. 1997 Oct;100(5-6):569-72. doi: 10.1007/s004390050553.

DOI:10.1007/s004390050553

PMID:9341872

Abstract

We have mapped AFX1 and p54nrb 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 p54nrb 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 untraslated. p54nrb 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 p54nrb 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.

摘要

我们已将AFX1和p54nrb定位到Xq13.1的一个酵母人工染色体（YAC）重叠群上，该重叠群包含X连锁肌张力障碍帕金森综合征（XDP）基因座DYT3。AFX1两侧是基因座DXS7116和Il2Rγ，p54nrb两侧是基因座DXS6673E和DXS7120。分析了这两个基因的外显子-内含子结构。AFX1由三个外显子组成，外显子3的大部分为非翻译区。p54nrb由12个外显子组成，大小从40 bp到1227 bp不等。起始密码子位于外显子3中，终止密码子位于外显子12中。这两个基因在大脑和其他组织中均有表达。通过对一名XDP患者和一名对照的外显子及其侧翼内含子序列进行测序，并通过Northern印迹分析，排除了AFX1和p54nrb作为DYT3候选基因的可能性。