The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.
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DOI：
10.1016/s0888-7543(05)80228-9
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发表时间：
1992-10
期刊：
影响因子：
4.4
通讯作者：
Lucille M. Kayes;Lucille M. Kayes;Wanda T. Schroeder;Wanda T. Schroeder;D. A. Marchuk;D. A. Marchuk;F. S. Collins;F. S. Collins;Vincent M. Riccardi;Madeleine Duvic;Karen Stephens;Karen Stephens
中科院分区：
文献类型：
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作者：
Lucille M. Kayes;Lucille M. Kayes;Wanda T. Schroeder;Wanda T. Schroeder;D. A. Marchuk;D. A. Marchuk;F. S. Collins;F. S. Collins;Vincent M. Riccardi;Madeleine Duvic;Karen Stephens;Karen Stephens
最近，编码表皮抗原的M17 S1基因被认为在细胞粘附中起作用，被定位到染色体带17 q11-q12，将其置于遗传性疾病神经纤维瘤病1（NF 1）基因的附近。NF 1的多形性皮肤病变和其他基因嵌入NF 1基因的先例促使我们研究M17 S1基因是否映射到NF 1基因附近或内部。遗传连锁分析表明，M17 S1与NF 1紧密连锁，并定位在D17 S58和D17 S54之间。在体细胞杂交体、酵母人工染色体和一个缺失了一个完整NF 1等位基因的NF 1患者上的M17 S1 cDNA的物理图谱表明，M17 S1位于NF 1基因的着丝粒区至少180 kb处。基因之间的距离表明，M17 S1是不太可能有助于NF 1表型，因为总的染色体重排将需要破坏两个基因的表达。
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 neurofi-bromatosis 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.