Physical linkage of the human growth hormone gene cluster and the skeletal muscle sodium channel alpha-subunit gene (SCN4A) on chromosome 17.

作者: IDRISS M. BENNANI-BAITI , BEVERLY K. JONES , STEPHEN A. LIEBHABER , NANCY E. COOKE

DOI: 10.1006/GENO.1995.9954

关键词: Gene mutationGeneticsRegulation of gene expressionLocus (genetics)Chromosome 17 (human)Yeast artificial chromosomeGene mappingGeneGene clusterMolecular biologyBiology

摘要: The human growth hormone (GH) locus, a cluster of five genes, spans 47 kb on chromosome 17q22-q24. skeletal muscle sodium channel alpha-subunit locus (SCN4A), 32.5-kb gene, has previously been mapped to 17q23.1-q25.3. We demonstrate that both the GH gene and SCN4A colocalize single 525-kb yeast artificial (YAC) containing DNA derived from 17. Restriction maps two cosmids encompassing 5' terminus including up 40 5'-flanking sequences perfect 20-kb overlap with published gene. A 720-bp segment, 32.3 31.6 GH, was sequenced found be identical exon 14 SCN4A. These data entire are contained within 100 17 separated by only 21.5 kb. Remarkably, this physical linkage between also reveals multiple elements critical tissue-specific transcriptional activation lie

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