Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1991-4-3
pubmed:databankReference
pubmed:abstractText
Type 1 hereditary tyrosinemia (HT) is an autosomal recessive disease characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH; E.C.3.7.1.2). We have isolated human FAH cDNA clones by screening a liver cDNA expression library using specific antibodies and plaque hybridization with a rat FAH cDNA probe. A 1,477-bp cDNA was sequenced and shown to code for FAH by an in vitro transcription-translation assay and sequence homology with tryptic fragments of purified FAH. Transient expression of this FAH cDNA in transfected CV-1 mammalian cells resulted in the synthesis of an immunoreactive protein comigrating with purified human liver FAH on SDS-PAGE and having enzymatic activity as shown by the hydrolysis of the natural substrate fumarylacetoacetate. This indicates that the single polypeptide chain encoded by the FAH gene contains all the genetic information required for functional activity, suggesting that the dimer found in vivo is a homodimer. The human FAH cDNA was used as a probe to determine the gene's chromosomal localization using somatic cell hybrids and in situ hybridization. The human FAH gene maps to the long arm of chromosome 15 in the region q23-q25.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2153931, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2336361, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2378355, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2378356, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-241077, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2444283, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-270706, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2857895, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2984396, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-2986678, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3025878, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3091928, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3296130, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3317254, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3546650, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3709578, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3718716, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-388439, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3943125, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3967888, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-3980018, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-4000758, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-4138930, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-6312838, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-6622096, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-6960240, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-7110134, http://linkedlifedata.com/resource/pubmed/commentcorrection/1998338-942051
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
525-35
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
pubmed:affiliation
Ontogénèse et Génétique Moléculaire, Centre de Recherche du CHUL, Ste-Foy, Québec, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't