SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family

Journal Article · Sat Mar 01 04:00:00 EST 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1996.4556· OSTI ID:518487

Lapenta, V; Chiurazzi, P ^[1]; Van Der Spek, P; Hanaoka, Fumio ^[2]

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1. Catholic Univ., Rome (Italy)
2. Osaka, Univ. (Japan); and others

cDNA selection was used to isolate coding sequences from cosmids mapping to the gene-rich telomeric region of human chromosome 21q. A novel cDNA, termed SMT3A, was isolated and mapped between the loci PFKL and D21S171, about 2.2 Mb proximal to the telomere. The predicted protein of 103 amino acids appears to be a homologue of the Saccharomyces cerevisiae SMT3 protein, whose gene was previously isolated as a suppressor of mutations in the MIF2 gene. The yeast MIF2 gene encodes an essential centromeric protein and shows homology to mammalian CENP-C, an integral component of active kinetochores. SMT3A was found to be highly homologous to two other recently isolated human genes, suggesting the presence of a new gene family. Homologous sequences were also found in protozoa, metazoa, and plants. Moreover, all predicted proteins show significant homology to ubiquitin. The proposed role of yeast SMT3 as centromeric protein and the strong evolutionary conservation of the SMT3A gene suggest an involvement of the encoded protein in the function and/or structure of the eukaryotic kinetochore. 30 refs., 5 figs.

• OSTI ID: 518487
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 40; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
BIOLOGICAL EVOLUTION
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONTIGS
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
DOWNS SYNDROME
EPILEPSY
ETIOLOGY
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
MENTAL DISORDERS
NUCLEOTIDES
RESOLUTION
SACCHAROMYCES CEREVISIAE