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

J Biol Chem. 1988 Aug 25;263(24):12002-10.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alkaline Phosphatase / genetics*
  • Base Sequence
  • Biological Evolution
  • Bone and Bones / enzymology*
  • DNA / genetics
  • DNA, Recombinant
  • Exons
  • Fibroblasts / enzymology
  • Humans
  • Introns
  • Kidney / enzymology*
  • Liver / enzymology*
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Osteosarcoma / enzymology
  • Promoter Regions, Genetic
  • RNA, Messenger / genetics
  • Transcription, Genetic
  • Tumor Cells, Cultured

Substances

  • DNA, Recombinant
  • RNA, Messenger
  • DNA
  • Alkaline Phosphatase

Associated data

  • GENBANK/J03929
  • GENBANK/M14168
  • GENBANK/M21959
  • GENBANK/M21960
  • GENBANK/M24428
  • GENBANK/M24429
  • GENBANK/M24430
  • GENBANK/M24431
  • GENBANK/M24432
  • GENBANK/M24433
  • GENBANK/M24434
  • GENBANK/M24435
  • GENBANK/M24436
  • GENBANK/M24437
  • GENBANK/M24438
  • GENBANK/M24439