Kayes L M, Schroeder W T, Marchuk D A, Collins F S, Riccardi V M, Duvic M, Stephens K
Department of Medicine, University of Washington School of Medicine, Seattle.
Genomics. 1992 Oct;14(2):369-76. doi: 10.1016/s0888-7543(05)80228-9.
Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic disorder neurofibromatosis 1 (NF1). The pleomorphic cutaneous lesions of NF1 and the precedent for other genes being embedded within the NF1 gene prompted us to investigate whether the M17S1 gene mapped near, or within, the NF1 gene. Genetic linkage analyses revealed that M17S1 was tightly linked to NF1 and mapped within the interval bounded by D17S58 and D17S54. Physical mapping of an M17S1 cDNA on somatic cell hybrids, yeast artificial chromosomes, and an NF1 patient with a deletion involving an entire NF1 allele demonstrated that M17S1 is located at least 180 kb centromeric to the NF1 gene. The distance between the genes suggests that M17S1 is unlikely to contribute to the NF1 phenotype since a gross chromosomal rearrangement would be required to disrupt expression of both genes.
最近，编码一种被认为在细胞黏附中起作用的表皮抗原的M17S1基因被定位到17号染色体的17q11 - q12带，使其位于遗传性疾病神经纤维瘤病1型（NF1）基因附近。NF1的多形性皮肤病变以及其他基因嵌入NF1基因的先例促使我们研究M17S1基因是否定位于NF1基因附近或其内部。遗传连锁分析显示，M17S1与NF1紧密连锁，并定位在由D17S58和D17S54界定的区间内。在体细胞杂种、酵母人工染色体以及一名涉及整个NF1等位基因缺失的NF1患者上对M17S1 cDNA进行物理图谱分析表明，M17S1位于NF1基因着丝粒方向至少180 kb处。基因之间的距离表明，M17S1不太可能导致NF1表型，因为需要大规模染色体重排才能破坏两个基因的表达。
