title: Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36.
abstract: A Ras-related GTP-binding protein cDNA has been isolated from a human skin fibroblast cDNA library using a genomic subclone derived from a YAC clone as a probe. The polypeptide, consisting of 184 amino acids deduced from nucleotide sequences, contains five repeats of the Ras-related GTP-binding region and is highly homologous to the rat RHEB (Ras homologue enriched in brain) gene, which encodes a Ras-related growth factor- and synaptic activity-regulated protein, with 98.9% amino acid identity. Therefore, it is suggested to be a human homologue of the rat RHEB protein, and we have designated it human RHEB. Using fluorescence in situ hybridization, we concluded that this human RHEB gene was localized to band q36 on chromosome 7. Considering the chromosomal localization as well as the potential function of this protein, it will be very important to investigate whether it may play a role in the etiopathogenesis of holoprosencephaly type 3 or hereditary sacral agenesis, in which the disease susceptible locus is linked to the microsatellite marker, D7S22, in this chromosomal region, 7q36.
authors.affiliation: Department of Ophthalmology, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, 236, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Mizuki
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: S
authors.initials: S
authors.lastname: Ohno
authors.forename: S
authors.initials: S
authors.lastname: Miyata
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: H
authors.initials: H
authors.lastname: Ando
authors.forename: M
authors.initials: M
authors.lastname: Ishihara
authors.forename: K
authors.initials: K
authors.lastname: Goto
authors.forename: S
authors.initials: S
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: A
authors.initials: A
authors.lastname: Ono
authors.forename: S
authors.initials: S
authors.lastname: Taguchi
authors.forename: K
authors.initials: K
authors.lastname: Okumura
authors.forename: M
authors.initials: M
authors.lastname: Nogami
authors.forename: T
authors.initials: T
authors.lastname: Taguchi
authors.forename: A
authors.initials: A
authors.lastname: Ando
authors.forename: H
authors.initials: H
authors.lastname: Inoko
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003001:Cloning, Molecular; D005347:Fibroblasts; D019204:GTP-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D020559:Monomeric GTP-Binding Proteins; D009154:Mutation; D009479:Neuropeptides / Q000096:biosynthesis / Q000235:genetics*; D000076205:Ras Homolog Enriched in Brain Protein; D051381:Rats; D012091:Repetitive Sequences, Nucleic Acid; D017386:Sequence Homology, Amino Acid; D012867:Skin / Q000166:cytology; D014018:Tissue Distribution
chemical_list: D009479:Neuropeptides; C490211:RHEB protein, human; D000076205:Ras Homolog Enriched in Brain Protein; C087693:Rheb protein, rat; D019204:GTP-Binding Proteins; D020559:Monomeric GTP-Binding Proteins