Srivastava A K, Montonen O, Saarialho-Kere U, Chen E, Baybayan P, Pispa J, Limon J, Schlessinger D, Kere J
Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, USA.
Am J Hum Genet. 1996 Jan;58(1):126-32.
In order to identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint in a female with t(X;1)(q13.1;p36.3) and EDA (patient AK) was finely mapped. The EDA region contains five groups of rare-cutter restriction sites that define CpG islands. The two more centromeric of these islands are associated with transcripts of 3.5 kb and 1.8 kb. The third CpG island maps within <1 kb of the translocation breakpoint in patient AK, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint (patient AnLy). Northern analysis with a probe from this CpG island detected an approximately 6-kb mRNA in several fetal tissues tested. An extended YAC contig of 1,200 kb with an average of fivefold coverage was constructed. The two most telomeric CpG islands map 350 kb telomeric of the two translocations. Taken together, the results suggest that the CpG island just proximal of the AK translocation breakpoint lies at the 5' end of a candidate gene for EDA.
为了鉴定人类X连锁无汗性外胚层发育不良（EDA）的基因，对一名患有t(X;1)(q13.1;p36.3)和EDA的女性（患者AK）的易位断点进行了精细定位。EDA区域包含五组定义CpG岛的稀有切割限制酶位点。这些岛中更靠近着丝粒的两个与3.5 kb和1.8 kb的转录本相关。如基因组重排所示，第三个CpG岛位于患者AK易位断点的<1 kb范围内，并且距另一个先前定位的易位断点（患者AnLy）着丝粒约100 kb。用来自该CpG岛的探针进行的Northern分析在几种测试的胎儿组织中检测到一个约6 kb的mRNA。构建了一个1200 kb的扩展YAC重叠群，平均覆盖五倍。两个最末端的CpG岛位于两个易位的端粒350 kb处。综合来看，结果表明，AK易位断点近端的CpG岛位于EDA候选基因的5'端。
