title: SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family.
abstract: 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.
authors.affiliation: Institute of Medical Genetics, Catholic University, Rome, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Lapenta
authors.forename: P
authors.initials: P
authors.lastname: Chiurazzi
authors.forename: P
authors.initials: P
authors.lastname: van der Spek
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: F
authors.initials: F
authors.lastname: Hanaoka
authors.forename: C
authors.initials: C
authors.lastname: Brahe
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D009928:Organ Specificity; D010802:Phylogeny; D012333:RNA, Messenger / Q000032:analysis; D012097:Repressor Proteins / Q000235:genetics*; D015183:Restriction Mapping; D012441:Saccharomyces cerevisiae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D025841:Small Ubiquitin-Related Modifier Proteins
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D012097:Repressor Proteins; C099362:SMT3 protein, S cerevisiae; C117909:SUMO2 protein, human; D029701:Saccharomyces cerevisiae Proteins; D025841:Small Ubiquitin-Related Modifier Proteins