title: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
abstract: The RFP-TM protein family was first described in Caenorhabditis elegans as hypothetical transmembrane proteins containing a conserved 350-400 amino acid domain including the invariant peptide motif RFP. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties. Here, we have identified three novel VMD2-related human genes (VMD2L1, VMD2L2 and VMD2L3) demonstrating a high degree of conservation in their respective RFP-TM domains. Each of the VMD2-like proteins has a unique C-terminus that lack similarity to other proteins or motifs. By FISH analysis, VMD2L1 was localised to chromosome 19p13.2-p13.12, VMD2L2 to 1p32.3-p33 and VMD2L3 to 12q14.2-q15. RT-PCR analyses revealed tissue-restricted expression of the three genes with both VMD2L1 and VMD2L2 abundantly transcribed in colon. VMD2L1 is present in the retinal pigment epithelium while VMD2L3 shows predominant expression in skeletal muscle.
authors.affiliation: Institut für Humangenetik, Universität Würzburg, Germany.
authors.forename: Heidi
authors.initials: H
authors.lastname: Stöhr
authors.forename: Andreas
authors.initials: A
authors.lastname: Marquardt
authors.forename: Indrajit
authors.initials: I
authors.lastname: Nanda
authors.forename: Michael
authors.initials: M
authors.lastname: Schmid
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000075002:Bestrophins; D018118:Chloride Channels; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003106:Colon / Q000378:metabolism; D017124:Conserved Sequence; D019143:Evolution, Molecular; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008268:Macular Degeneration / Q000235:genetics; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D010857:Pigment Epithelium of Eye / Q000378:metabolism; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: C113133:BEST1 protein, human; C465970:BEST2 protein, human; C465972:BEST3 protein, human; C465971:BEST4 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D009124:Muscle Proteins; D011506:Proteins