Identification, characterization, and localization of the human lysyl oxidase-related gene
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133823
- Univ. of Florida College of Medicine, Gainesville, FL (United States)
Lysyl oxidase (lox) initiates the formation of inter- and intra-strand covalent crosslinks of mature collagen and elastin in connective tissue. The lox gene has been cloned and mapped to human chromosome 5q23.3-31.2. The lysyl oxidase gene is approximately 15 kb in size and consists of seven exons. Lox mRNA is expressed at high levels in rat aorta and lung, and is undetectable in brain, kidney, liver, and heart. We have cloned and sequenced a lysyl oxidase-related cDNA, lox2, which exhibits amino acid sequence homology to the carboxyl end of lox. However, the function of lox2 is unknown. The tissue- and cell-specific expression patterns of lox2 have been examined by Northern blot analysis. Levels of lox2 mRNA in mouse and rat tissue is elevated in heart, lung, kidney and spleen; low in brain, and muscle, and is not detected in liver. In cultured cells, lox2 mRNA levels are high in human skin and corneal fibroblasts, human and rat lung fibroblasts, and rat lung epithelial-like cells. Low levels of lox2 mRNA are found in human pulmonary artery endothelial cells and neuroblastoma cells and are undetectable in human hepatoma cells. We have isolated multiple, unique, overlapping lox2 genomic clones from a human leukocyte genomic phage library. Using a genomic phage clone as a probe, we have mapped lox2 to human chromosome 15q23-24 using fluorescence in situ hybridization to human metaphase chromosomes. Characterization of the genomic phage clones indicates significant conservation of gene structure in the 3{prime} conserved region of lox2 relative to lox. This preservation of gene structure suggests a partial gene duplication between human chromosomes 15 and 5.
- OSTI ID:
- 133823
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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