作者: IDRISS M. BENNANI-BAITI , BEVERLY K. JONES , STEPHEN A. LIEBHABER , NANCY E. COOKE
关键词: Gene mutation 、 Genetics 、 Regulation of gene expression 、 Locus (genetics) 、 Chromosome 17 (human) 、 Yeast artificial chromosome 、 Gene mapping 、 Gene 、 Gene cluster 、 Molecular biology 、 Biology
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