Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-3-14
pubmed:databankReference
pubmed:abstractText
Propionyl CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of amino acids, odd-chained fatty acids and other metabolites. PCC is composed of two equal subunits, alpha and beta, which are encoded by two separate genes at two distinct human loci. Mutations of either gene in humans results in propionic acidemia (PA). To identify the mouse cDNA for the propionyl CoA carboxylase beta-subunit (pccb), we have screened the mouse EST database using the human sequence. The murine mRNA transcript is approximately 2.3 kb, nearly 500 bps larger than the human approximately 1.8 kb transcript. A PAC genomic DNA clone from the mouse was also isolated and used to generate probes and PCR primers for mapping the pccb locus in the mouse. Both the C57Bl/6JEi and Spret/Ei alleles for regions flanking the pccb gene were sequenced to identify RFLPs. The Jackson Laboratory BSS and BSB backcross panel DNAs were then analyzed using a DdeI polymorphism placing the pccb locus on mouse chromosome 9. Northern blots of adult tissue show that the pccb gene is broadly expressed in the mouse. The approximately 2.3 kb transcript is most abundantly expressed in the kidney, liver, small intestine and stomach tissues.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0378-1119
pubmed:author
pubmed:issnType
Print
pubmed:day
7
pubmed:volume
264
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
147-52
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:11245989-Amino Acid Metabolism, Inborn Errors, pubmed-meshheading:11245989-Amino Acid Sequence, pubmed-meshheading:11245989-Animals, pubmed-meshheading:11245989-Base Sequence, pubmed-meshheading:11245989-Blotting, Northern, pubmed-meshheading:11245989-Carbon-Carbon Ligases, pubmed-meshheading:11245989-Chromosome Mapping, pubmed-meshheading:11245989-Chromosomes, pubmed-meshheading:11245989-Cloning, Molecular, pubmed-meshheading:11245989-DNA, Complementary, pubmed-meshheading:11245989-Female, pubmed-meshheading:11245989-Gene Expression Regulation, Enzymologic, pubmed-meshheading:11245989-Humans, pubmed-meshheading:11245989-Male, pubmed-meshheading:11245989-Mice, pubmed-meshheading:11245989-Mice, Inbred C57BL, pubmed-meshheading:11245989-Molecular Sequence Data, pubmed-meshheading:11245989-Propionic Acids, pubmed-meshheading:11245989-RNA, Messenger, pubmed-meshheading:11245989-Sequence Alignment, pubmed-meshheading:11245989-Sequence Analysis, DNA, pubmed-meshheading:11245989-Sequence Homology, Amino Acid, pubmed-meshheading:11245989-Tissue Distribution
pubmed:year
2001
pubmed:articleTitle
cDNA cloning, mapping and expression of the mouse propionyl CoA carboxylase beta (pccb), the gene for human type II propionic acidaemia.
pubmed:affiliation
Department of Molecular Genetics, Microbiology and Biochemistry, University of Cincinnati, Cincinnati OH 45267, USA. jerry.lingrel@uc.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't