Cloning and characterization of a novel orphan G-protein-coupled receptor localized to human chromosome 2p16

被引:22
作者
Tarttelin, EE
Kirschner, LS
Bellingham, J
Baffi, J
Taymans, SE
Gregory-Evans, K
Csaky, K
Stratakis, CA
Gregory-Evans, CY
机构
[1] Univ London Imperial Coll Sci Technol & Med, Sch Med, Div Biomed Sci, Mol Genet Sect, London SW7 2AZ, England
[2] Univ London Imperial Coll Sci Technol & Med, Sch Med, Western Eye Hosp, Acad Unit Ophthalmol, London SW7 2AZ, England
[3] NICHHD, Unit Genet & Endocrinol, NIH, Bethesda, MD 20892 USA
[4] NEI, Immunol Lab, Sect Gene Therapy, NIH, Bethesda, MD 20892 USA
基金
英国惠康基金;
关键词
D O I
10.1006/bbrc.1999.0753
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
We report the identification and characterisation of a novel human orphan G-protein-coupled receptor (GPR) which maps to chromosome 2p16. We have determined the full-length coding sequence and genomic structure of a gene corresponding to the anonymous expressed sequenced tag, WI-31133. This gene encodes a novel protein that is 540 amino acids in length. Protein sequence analysis predicts the presence of seven transmembrane domains, a characteristic feature of GPRs. In situ, hybridisation to human retina and Northern blot analysis of human retinal pigment epithelium (RPE) showed localisation of this transcript to the RPE and cells surrounding retinal arterioles; In contrast, the transcript was localised to the photoreceptor inner segments and the outer plexiform layer in mouse sections. Northern blot analysis demonstrated a 7 kb transcript highly expressed in the brain. No mutations were identified during a screen of patients suffering from Doyne's honeycomb retinal dystrophy (DHRD), an inherited retinal degeneration which maps to chromosome 2p16. (C) 1999 Academic Press.
引用
收藏
页码:174 / 180
页数:7
相关论文
共 16 条
  • [1] Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
    Altschul, SF
    Madden, TL
    Schaffer, AA
    Zhang, JH
    Zhang, Z
    Miller, W
    Lipman, DJ
    [J]. NUCLEIC ACIDS RESEARCH, 1997, 25 (17) : 3389 - 3402
  • [2] DOHLMAN HG, 1991, ANNU REV BIOCHEM, V60, P653, DOI 10.1146/annurev.biochem.60.1.653
  • [3] Doyne RW., 1899, T OPHTHAL SOC UK, V19, P71
  • [4] ARPE-19, a human retinal pigment epithelial cell line with differentiated properties
    Dunn, KC
    AotakiKeen, AE
    Putkey, FR
    Hjelmeland, LM
    [J]. EXPERIMENTAL EYE RESEARCH, 1996, 62 (02) : 155 - 169
  • [5] Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy
    Evans, K
    Gregory, CY
    Wijesuriya, SD
    Kermani, S
    Jay, MR
    Plant, C
    Bird, AC
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (07) : 904 - 910
  • [6] Dual immunodetection and hybridisation in situ of opsin mRNA and rhodopsin protein in retinal sections
    Foreman, DM
    Jones, S
    McKechnie, NM
    Williams, G
    Boulton, ME
    [J]. OPHTHALMIC RESEARCH, 1996, 28 (05) : 296 - 302
  • [7] Rhodopsin mutations in inherited retinal dystrophies and dysfunctions
    Gal, A
    ApfelstedtSylla, E
    Janecke, AR
    Zrenner, E
    [J]. PROGRESS IN RETINAL AND EYE RESEARCH, 1997, 16 (01) : 51 - 79
  • [8] The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
    Gregory, CY
    Evans, K
    Wijesuriya, SD
    Kermani, S
    Jay, MR
    Plant, C
    Cox, N
    Bird, AC
    Bhattacharya, SS
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 1055 - 1059
  • [9] Linkage of autosomal dominant radial drusen (Malattia leventinese) to chromosome 2p16-21
    Heon, E
    Piguet, B
    Munier, F
    Sneed, SR
    Morgan, CM
    Forni, S
    Pescia, G
    Schorderet, D
    Taylor, CM
    Streb, LM
    Wiles, CD
    Nishimura, DY
    Sheffield, VC
    Stone, EM
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1996, 114 (02) : 193 - 198
  • [10] SOSUI: classification and secondary structure prediction system for membrane proteins
    Hirokawa, T
    Boon-Chieng, S
    Mitaku, S
    [J]. BIOINFORMATICS, 1998, 14 (04) : 378 - 379