Chromosomal localization of the human elastin gene

B. S. Emanuel, L. Cannizzaro, N. Ornstein-Goldstein, Z. K. Indik, K. Yoon, M. May, L. Oliver, C. Boyd, J. Rosenbloom

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


mRNA isolated from fetal human aorta was used to synthesize cDNA that was cloned into the PstI site of pBR322. The recombinant clones were screened with an authentic sheep elastin cDNA, and one human clone that hybridized strongly was isolated and characterized. The 421-base pair (bp) insert of this human clone was sequenced by the dideoxy method, and the DNA sequence showed strong homology to the nontranslated portion of the sheep elastin cDNA. This result unequivocally identified the human clone, designated pcHEL1, as an elastin clone. Plasmid pcHEL1 labeled with [3H] nucleotides was used in in situ hybridization experiments utilizing normal metaphase chromosomes and also with cells carrying a balanced translocation between chromosomes 1 and 2: 46,XY,t(1;2)(p36;q31). The results strongly suggest that the elastin gene is localized to the q31←qter region of chromosome 2.

Original languageEnglish (US)
Pages (from-to)873-882
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 1985
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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