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PMID: 3840328 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Chromosomal localization of the human elastin gene.

American journal of human genetics ·Vol. 37 ·No. 5 ·1985-09-00 ·Pages 873-82

Emanuel BS, Cannizzaro L, Ornstein-Goldstein N, Indik ZK, Yoon K, May M, Oliver L, Boyd C, Rosenbloom J

Abstract

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.

MeSH Terms
Animals Autoradiography Base Sequence Chromosome Mapping Chromosomes, Human, 1-3 Cloning, Molecular DNA/genetics Elastin/genetics Genes Humans Karyotyping Nucleic Acid Hybridization Plasmids Sheep Translocation, Genetic
Chemicals
DNA Elastin
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Emanuel B S
Cannizzaro L
Ornstein-Goldstein N
Indik Z K
Yoon K
May M
Oliver L
Boyd C
Rosenbloom J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-09-00
Pages
873-82
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684702
Subset
IM
Grants
NIADDK NIH HHS · AM-20553 · United States
NIDCR NIH HHS · DE-02623 · United States
NHLBI NIH HHS · HL-29702 · United States
External Links
PubMed source PMC Full Text View journal details
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