A sequence with homology to human HPFH-linked enhancer elements and to a family of G-protein linked membrane receptor genes is located downstream of the chicken beta-globin locus

Gene. 1999 Jul 8;234(2):345-52. doi: 10.1016/s0378-1119(99)00186-9.

Abstract

We report 5805bp of novel sequence (GenBank/EMBL Accession No. AJ012570) from a region starting approx. 11.5kb downstream of the chicken beta-globin locus (map position approx. +30.8 to +36.6kb), which contains a 945bp open reading frame (map position approx. +33 to +33.9kb). This is predicted to encode a 315-residue protein containing seven hydrophobic helical regions and a 17 amino acid motif characteristic of the R7G family of G-protein coupled membrane-bound receptors. The open reading frame and some surrounding sequence also have significant homology with the breakpoint enhancer elements, which also contain open reading frames, implicated in the HPFH-1/2 and HPFH-6 deletional forms of the human syndrome, hereditary persistence of foetal haemoglobin (HPFH). The existence of similar sequences at similar distances downstream of the beta-globin genes in chickens and HPFH patients is intriguing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chickens
  • Chromosome Mapping
  • DNA / chemistry
  • DNA / genetics*
  • Enhancer Elements, Genetic*
  • Fetal Hemoglobin / genetics*
  • GTP-Binding Proteins / metabolism
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Open Reading Frames
  • Receptors, Cell Surface / genetics*
  • Receptors, Cell Surface / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid

Substances

  • Receptors, Cell Surface
  • Globins
  • DNA
  • Fetal Hemoglobin
  • GTP-Binding Proteins

Associated data

  • GENBANK/AJ012570