BIOMAT Database Logo BIOMAT Database Logo

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). 1997

L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, IFREM, Institut Necker, Hôpital des Enfants Malades, Paris, France.

Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease in human characterized by degeneration of motor neurons of the spinal cord. The genomic region containing the defective gene (5q13) is particularly unstable and prone to large-scale deletions whose characterization led to the identification of the survival motor neuron (SMN) gene, the SMA determining gene encoding a hitherto unknown protein. As an initial step toward the generation of a murine model for SMA, we identified and characterized a full-length murine Smn cDNA. The coding sequence of the mouse Smn gene was found to be 82% identical, at the amino acid level, with the human SMN coding sequence. The Smn locus was mapped to the segment of mouse chromosome 13 exhibiting conservation of synteny with human chromosome 5q11-q23, which contains the SMN gene. However, no evidence for a duplication of the Smn gene was found in the mouse, suggesting that the duplication reported in human is a recent evolutionary event.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009419 Nerve Tissue Proteins Proteins, Nerve Tissue,Tissue Proteins, Nerve
D011061 Poly A A group of adenine ribonucleotides in which the phosphate residues of each adenine ribonucleotide act as bridges in forming diester linkages between the ribose moieties. Adenine Polynucleotides,Polyadenylic Acids,Poly(rA),Polynucleotides, Adenine
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002895 Chromosomes, Human, Pair 5 One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5). Chromosome 5
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
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
D014018 Tissue Distribution Accumulation of a drug or chemical substance in various organs (including those not relevant to its pharmacologic or therapeutic action). This distribution depends on the blood flow or perfusion rate of the organ, the ability of the drug to penetrate organ membranes, tissue specificity, protein binding. The distribution is usually expressed as tissue to plasma ratios. Distribution, Tissue,Distributions, Tissue,Tissue Distributions
D015139 Blotting, Southern A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. Southern Blotting,Blot, Southern,Southern Blot

Related Publications

L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Description and physical localization of the bovine survival of motor neuron gene (SMN).
January 1998, Cytogenetics and cell genetics,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
cDNA isolation, expression, and chromosomal localization of the mouse pcph proto-oncogene.
October 1999, Molecular carcinogenesis,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA.
December 2011, Transgenic research,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
The mouse Muc5b mucin gene: cDNA and genomic structures, chromosomal localization and expression.
May 2002, The Biochemical journal,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.
November 2000, Molecular medicine (Cambridge, Mass.),
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Mouse histamine N-methyltransferase: cDNA cloning, expression, gene cloning and chromosomal localization.
June 2001, Inflammation research : official journal of the European Histamine Research Society ... [et al.],
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
An AluI PCR-RFLP in the bovine survival motor neuron gene (SMN).
April 1999, Animal genetics,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression.
June 2015, The Journal of biological chemistry,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.
September 2000, Neurogenetics,
L Viollet, and S Bertrandy, and A L Bueno Brunialti, and S Lefebvre, and P Burlet, and O Clermont, and C Cruaud, and J L Guénet, and A Munnich, and J Melki
Survival Motor Neuron (SMN) protein is required for normal mouse liver development.
October 2016, Scientific reports,
Copied contents to your clipboard!