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
Dm. Staines et Jo. Thomas, 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, 234(2), 1999, pp. 345-352
We report 5805 bp of novel sequence (GenBank/EMBL Accession No. AJ012570) f
rom a region starting approx. 11.5 kb downstream of the chicken P-globin lo
cus (map position approx. +30.8 to +36.6 kb), which contains a 945 bp open
reading frame (map position approx. +33 to +33.9 kb). This is predicted ro
encode a 315-residue protein containing seven hydrophobic helical regions a
nd a 17 amino acid motif characteristic of the R7G family of G-protein coup
led membrane-bound receptors. The open reading frame and some surrounding s
equence also have significant homology with the breakpoint enhancer element
s, which also contain open reading frames, implicated in the HPFH-1/2 and H
PFH-6 deletional forms of the human syndrome, hereditary persistence of foe
tal haemoglobin (HPFH). The existence df similar sequences at similar dista
nces downstream of the P-globin genes in chickens and HPFH patients is intr
iguing. (C) 1999 Elsevier Science B.V. All rights reserved.