Biomaterial Database

Comparative aspects of the Werner syndrome gene. 2000

J Oshima

Department of Pathology, University of Washington, Seattle 98195, USA. picard@.u.washington.edu

Werner syndrome (WS) ("Progeria of the adult"; entry *27770 (1)) was originally defined by Dr. Otto Werner in 1904 on the basis of "scleroderma-like" thin, tight skin and bilateral cataracts in a sibship (2). Among the many systemic clinical features of WS, the various progeroid features have drawn special attention. WS is caused by a mutation at the Werner syndrome gene (WRN) locus, which belongs to the family of RecQ helicases (GenBank accession number L76937)(3). This review focuses on the comparative aspects of WRN, including differential gene action within humans and the potential differences between species, particularly the mouse and human.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011110	Polymorphism, Genetic	The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.	Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D004195	Disease Models, Animal	Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases.	Animal Disease Model,Animal Disease Models,Disease Model, Animal
D004265	DNA Helicases	Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition, DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.	ATP-Dependent DNA Helicase,DNA Helicase,DNA Unwinding Protein,DNA Unwinding Proteins,ATP-Dependent DNA Helicases,DNA Helicase A,DNA Helicase E,DNA Helicase II,DNA Helicase III,ATP Dependent DNA Helicase,ATP Dependent DNA Helicases,DNA Helicase, ATP-Dependent,DNA Helicases, ATP-Dependent,Helicase, ATP-Dependent DNA,Helicase, DNA,Helicases, ATP-Dependent DNA,Helicases, DNA,Protein, DNA Unwinding,Unwinding Protein, DNA,Unwinding Proteins, DNA
D005090	Exodeoxyribonucleases	A family of enzymes that catalyze the exonucleolytic cleavage of DNA. It includes members of the class EC 3.1.11 that produce 5'-phosphomonoesters as cleavage products.	DNA Exonucleases,Exonucleases, DNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071657	Werner Syndrome Helicase	A DNA-dependent helicase and 3'-5' exonuclease. It has 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang and binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and HOLLIDAY JUNCTIONS. Mutations in the WRN gene are associated with WERNER SYNDROME.	RECQ3 Protein,RECQL2 Protein,Werner Syndrome ATP-Dependent Helicase,Werner Syndrome RecQ-Like Helicase,Helicase, Werner Syndrome,Werner Syndrome ATP Dependent Helicase,Werner Syndrome RecQ Like Helicase
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D014898	Werner Syndrome	An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.	Progeria, Adult,Adult Premature Aging Syndrome,Adult Progeria,Werner's Syndrome,Werners Syndrome,Syndrome, Werner,Syndrome, Werner's,Syndrome, Werners
D051379	Mice	The common name for the genus Mus.	Mice, House,Mus,Mus musculus,Mice, Laboratory,Mouse,Mouse, House,Mouse, Laboratory,Mouse, Swiss,Mus domesticus,Mus musculus domesticus,Swiss Mice,House Mice,House Mouse,Laboratory Mice,Laboratory Mouse,Mice, Swiss,Swiss Mouse,domesticus, Mus musculus