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An intragenic deletion in the human PTPN6 gene affects transcriptional activity.

作者信息

Nehls M, Schorpp M, Boehm T

机构信息

German Cancer Center, Heidelberg.

出版信息

Hum Genet. 1995 Jun;95(6):713-5. doi: 10.1007/BF00209495.

DOI:10.1007/BF00209495
PMID:7789961
Abstract

An intragenic deletion in the human PTPN6 gene is described. The PTPN6 gene maps to chromosome 12p12-13 and is shown to possess two alternative first exons. A 1.7-kb deletion occurring in the intron between the two alternatively used first exons is the result of an illegitimate recombination between two Alu-type repeats. The deletion increases the transcriptional activity of the distal promotor.

摘要

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本文引用的文献

1
Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene.斑驳病小鼠和存活的斑驳病小鼠在造血细胞磷酸酶基因中存在突变。
Nat Genet. 1993 Jun;4(2):124-9. doi: 10.1038/ng0693-124.
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Exon amplification from complete libraries of genomic DNA using a novel phage vector with automatic plasmid excision facility: application to the mouse neurofibromatosis-1 locus.
从靶向哺乳动物染色体的双链断裂引发的间质缺失和染色体内扩增。
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A protein-tyrosine phosphatase with sequence similarity to the SH2 domain of the protein-tyrosine kinases.一种与蛋白酪氨酸激酶的SH2结构域具有序列相似性的蛋白酪氨酸磷酸酶。
Nature. 1991 Aug 22;352(6337):736-9. doi: 10.1038/352736a0.