Disease relevance of GPR34

• Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1 [1].

High impact information on GPR34

• Our data show that multiple translation initiation starts and alternative splicing contribute to the supragenomic diversification of GPR34 [2].
• Directed cloning approaches and large-scale sequencing of several vertebrate genomes unveiled many new members of the G-protein-coupled receptor (GPCR) superfamily, among them GPR34 [2].
• Combinatory mutagenesis and expression of reporter constructs confirmed these multiple translational start points and revealed a preference for the second in-frame AUG in human GPR34 [2].
• Deletion screening via Southern blotting and direct sequencing of GPR34 revealed no mutations in 19 unrelated men with CSNB1, excluding a causal role in the disease [1].
• However, because of its expression in retinal and neural tissue and the involvement of GPCRs in transmembrane signal transduction, GPR34 remains a putative candidate gene for a number of ocular diseases which also map to the Xp11.4 region [1].

Biological context of GPR34

• Partial sequence of GPR34 was discovered during a search of the GenBank database of expressed sequence tags (ESTs) [3].
• This sequence information was used both to isolate the full-length translational open reading frame from a human genomic library and to assemble a contig from additional GPR34 EST cDNAs [3].
• For chromosomal localization, fluorescence in situ hybridization analysis was performed to assign GPR34 to chromosomes 4p12 and Xp11 [3].
• Based on structural similarities of an expressed sequence tag with the platelet-activating factor (PAF) receptor a cDNA clone encoding a novel G-protein-coupled receptor (GPCR), named GPR34, was isolated from a human fetal brain cDNA library [4].

Anatomical context of GPR34

• These results suggest that GPR34 is the functional mast cell lysoPS receptor [5].
• Expression of the human GPR34 in COS-7 cells followed by Western blot studies revealed specific bands of a highly glycosylated protein between 75 and 90 kDa [4].

Other interactions of GPR34

• The receptor encoded by GPR34 is most similar to the P2Y receptor subfamily, while the receptor encoded by GPR44 is most similar to chemoattractant receptors [3].

Analytical, diagnostic and therapeutic context of GPR34

• Northern blot and in situ hybridization analyses revealed GPR34 mRNA transcripts in several human and rat brain regions [3].

References