Human elastin gene: new evidence for localization to the long arm of chromosome 7.
- 1 April 1991
- journal article
- Vol. 48 (4) , 696-703
Abstract
In this study we have utilized human elastin cDNAs in molecular hybridizations to establish the chromosomal location of the human elastin gene. First, in situ hybridizations were performed with metaphase chromosomes from phytohemagglutinin-stimulated human peripheral blood lymphocytes. In three separate experiments using two different regions of human elastin cDNAs, the distribution of grains was found to be concentrated on the long arm of chromosome 7 within the [q11.1-21.1] region, and the peak number of grains coincided with the locus 7q11.2. Second, hybridizations with a panel of human-rodent cell hybrids showed concordance with human chromosome 7. Third, PCR analyses with elastin-specific primers of DNA from a hybrid cell line containing chromosome 7 as the only human chromosome yielded a product of the expected size, while DNA containing human chromosome 2, but not chromosome 7, did not result in a product. The results indicate that the human elastin gene is located in the proximal region of the long arm of chromosome 7. The precise localization of the elastin gene in the human genome is useful in establishing genetic linkage between inheritance of an allele with a mutated elastin gene and a heritable disorder.This publication has 22 references indexed in Scilit:
- Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.Journal of Biological Chemistry, 1988
- Human laminin B1 chain. A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7.Journal of Biological Chemistry, 1987
- Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.Proceedings of the National Academy of Sciences, 1987
- Developmental Initiation of Elastin Gene Expression by Human Fetal Skin FibroblastsJournal of Investigative Dermatology, 1987
- The Gene Coding for Tropoelastin is Represented as a Single Copy Sequence in the Haploid Sheep GenomeCollagen and Related Research, 1987
- Regional assignment of the erythropoietin gene to human chromosome region 7pter→q22Cytogenetic and Genome Research, 1986
- CHROMOSOMAL LOCALIZATION OF THE HUMAN ELASTIN GENE1985
- MAPPING OF TRANSFORMING GROWTH-FACTOR ALPHA-GENE ON HUMAN CHROMOSOME-2 CLOSE TO THE BREAKPOINT OF THE BURKITTS-LYMPHOMA T(2,8) VARIANT TRANSLOCATION1985
- Elastin: relation of protein and gene structure to disease.1984
- ASSIGNMENT OF THE HUMAN PRO-ALPHA-2(I) COLLAGEN STRUCTURAL GENE (COLIA2) TO CHROMOSOME-7 BY MOLECULAR HYBRIDIZATION1982