Structure of the human liver/bone/kidney alkaline phosphatase gene

In man, there are multiple forms of alkaline phosphatase encoded by at least three homologous genes: placental, intestinal, and liver/bone/kidney. This report describes the characterization of the human liver/bone/kidney alkaline phosphatase locus. The gene appears to exist as a single copy in the h...

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Bibliographic Details
Published in:The Journal of biological chemistry 1988-08, Vol.263 (24), p.12002-12010
Main Authors: Weiss, M J, Ray, K, Henthorn, P S, Lamb, B, Kadesch, T, Harris, H
Format: Article
Language:English
Subjects:
Alkaline Phosphatase - genetics
Base Sequence
Biological and medical sciences
Biological Evolution
Bone and Bones - enzymology
DNA - genetics
DNA, Recombinant
Exons
Fibroblasts - enzymology
Fundamental and applied biological sciences. Psychology
Genes. Genome
Humans
Introns
Kidney - enzymology
Liver - enzymology
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Nucleic Acid Hybridization
Osteosarcoma - enzymology
Promoter Regions, Genetic
RNA, Messenger - genetics
Transcription, Genetic
Tumor Cells, Cultured
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Summary:In man, there are multiple forms of alkaline phosphatase encoded by at least three homologous genes: placental, intestinal, and liver/bone/kidney. This report describes the characterization of the human liver/bone/kidney alkaline phosphatase locus. The gene appears to exist as a single copy in the haploid genome and is comprised of 12 exons distributed over more than 50 kilobases. In liver, kidney, SAOS-2 human osteosarcoma cells, and cultured fibroblasts, there is a single major start for transcription situated about 25 nucleotides downstream of an A/T-rich motif. The promoter region is extremely G/C-rich, is relatively abundant in the dinucleotide CpG, and contains four copies of the consensus sequence for SP1 binding (GGGCGG). The liver/bone/kidney alkaline phosphatase gene is at least five times larger than the intestinal and placental alkaline phosphatase genes, mainly due to intron size differences. Intron-exon junctions occur at analogous positions in all three genes, but there is an extra non-coding exon at the 5′ end of the liver/bone/kidney alkaline phosphatase gene. The relevance of our findings with respect to the evolution of the human alkaline phosphatase multigene family is discussed.
ISSN:0021-9258
1083-351X
DOI:10.1016/S0021-9258(18)37885-2