TY - JOUR
T1 - Chromosomal localization of the human elastin gene
AU - Emanuel, B. S.
AU - Cannizzaro, L.
AU - Ornstein-Goldstein, N.
AU - Indik, Z. K.
AU - Yoon, K.
AU - May, M.
AU - Oliver, L.
AU - Boyd, C.
AU - Rosenbloom, J.
PY - 1985
Y1 - 1985
N2 - 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.
AB - 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.
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M3 - Article
C2 - 3840328
AN - SCOPUS:0022382845
SN - 0002-9297
VL - 37
SP - 873
EP - 882
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -