Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse

Mamm Genome. 1993;4(6):314-23. doi: 10.1007/BF00357090.

Abstract

The human alpha-globin gene cluster (30 kb) is embedded in a GC-rich isochore very close to the telomere of Chromosome (Chr) 16p. The alpha-Locus Controlling Region (alpha-LCR) is located upstream of the adult alpha-globin genes and has been shown to be essential for their expression. In this study we have been looking for expressed genes in the region upstream of the alpha-globin cluster to understand the role of the LCR-like element in the expression and replication timing of flanking gene clusters. We show that the upstream alpha-globin region is conserved over a 75-kb range and includes at least two oppositely transcribed non-globin genes, here referred to as Mid1 and Dist1. Complementary DNA sequences of 250 bp and 2.5 kb from Mid1 (coordinate -68) and Dist1 (coordinate -90 to -99), respectively, were isolated from human and mouse. The deduced partial amino acid sequences of these cDNAs are 81% and 95% identical for the Mid1 and Dist1 gene respectively. We have cloned a mouse cosmid "contig" which includes Dist1, Mid1, and the entire murine alpha-globin cluster. The murine homolog of the alpha-LCR was mapped upstream of the mouse globin genes at approximately the same position as in the human locus. Our results indicate that, in mouse and human, the alpha-globin loci and their flanking sequences are homologous over a range of at least 130 kb. The structural homology of this region in both mammals suggests also a functional one and indicates the mouse as a potential model for studying the role of the alpha-LCR controlling element in the regulation of expression and replication timing of the flanking gene clusters.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Cloning, Molecular
  • Conserved Sequence*
  • DNA / genetics
  • DNA, Single-Stranded
  • ErbB Receptors*
  • Gene Expression
  • Globins / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Membrane Proteins
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Multigene Family*
  • Proteins / genetics
  • Regulatory Sequences, Nucleic Acid*
  • Restriction Mapping
  • Sequence Homology, Nucleic Acid

Substances

  • DNA, Single-Stranded
  • Membrane Proteins
  • Proteins
  • RHBDF1 protein, human
  • Rhbdf1 protein, mouse
  • Globins
  • DNA
  • ErbB Receptors

Associated data

  • GENBANK/M99623
  • GENBANK/M99624
  • GENBANK/M99625
  • GENBANK/M99626