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

Journal Article · Wed May 15 00:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0248· OSTI ID:478566

Mizuki, Nobuhisa ^[1]; Kimura, Minoru; Miyata, Shoji ^[2]

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1. Yokohama City Univ. School of Medicine, Kanazawa-ku, Yokohama (Japan)
2. Tokai Univ. School of Medicine, Isehara, Kanagawa (Japan); and others

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. 9 refs., 4 figs.

• OSTI ID: 478566
• Journal Information: Genomics, Vol. 34, Issue 1; Other Information: PBD: 15 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 7
GENETIC MAPPING
HEREDITARY DISEASES
ETIOLOGY
PATHOLOGY
MAN
GTP-ASES
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION
GENE REGULATION
DNA-CLONING
DNA SEQUENCING
GENE MUTATIONS
RATS
BIOLOGICAL MARKERS
COSMIDS
CONTIGS
FLUORESCENCE
IN-SITU HYBRIDIZATION
AMINO ACID SEQUENCE
PROBES
NUCLEOTIDES