PMID- 10373324
OWN - NLM
STAT- MEDLINE
DCOM- 19990723
LR  - 20131121
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 58
IP  - 3
DP  - 1999 Jun 15
TI  - Gene structure, chromosomal location, and expression pattern of
      maleylacetoacetate isomerase.
PG  - 263-9
AB  - The gene for maleylacetoacetate isomerase (MAAI) (EC 5.2.1.2) was the last gene
      in the mammalian phenylalanine/tyrosine catabolic pathway to be cloned. We have
      isolated the human and murine genes and determined their genomic structure. The
      human gene spans a genomic region of approximately 10 kb, has 9 exons ranging
      from 50 to 528 bp in size, and was mapped to 14q24.3-14q31.1 using fluorescence
      in situ hybridization. The complete catabolic pathway of phenylalanine/tyrosine
      is normally restricted to liver and kidney, but the maleylacetoacetate isomerase 
      gene is expressed ubiquitously. This suggests a possible second role for the MAAI
      protein different from phenylalanine/tyrosine catabolism. We have searched for
      mutations in the maleylacetoacetate isomerase gene in four cases of unexplained
      severe liver failure in infancy with clinical similarities to hereditary
      tyrosinemia type I (pseudotyrosinemia). Several amino acid changes were
      identified, but all were found to retain MAAI activity and thus represent protein
      polymorphisms. We conclude that MAAI deficiency is not a common cause of the
      pseudotyrosinemic phenotype.
CI  - Copyright 1999 Academic Press.
FAU - Fernandez-Canon, J M
AU  - Fernandez-Canon JM
AD  - Department of Molecular and Medical Genetics, Department of Pediatrics, Oregon
      Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, Oregon
      97201, USA. fernandj@ohsu.edu
FAU - Hejna, J
AU  - Hejna J
FAU - Reifsteck, C
AU  - Reifsteck C
FAU - Olson, S
AU  - Olson S
FAU - Grompe, M
AU  - Grompe M
LA  - eng
SI  - GENBANK/AF093418
SI  - GENBANK/AF095582
SI  - GENBANK/AF098311
SI  - GENBANK/AF098312
SI  - GENBANK/AF098313
SI  - GENBANK/AF098314
SI  - GENBANK/AF098315
SI  - GENBANK/AF098316
SI  - GENBANK/AF098317
SI  - GENBANK/AF098318
SI  - GENBANK/AH007937
GR  - R01-DK48252/DK/NIDDK NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 42HK56048U (Tyrosine)
RN  - 63231-63-0 (RNA)
RN  - 9007-49-2 (DNA)
RN  - EC 5.2.- (cis-trans-Isomerases)
RN  - EC 5.2.1.2 (maleylacetoacetate isomerase)
SB  - IM
MH  - Alleles
MH  - Amino Acid Metabolism, Inborn Errors/enzymology/genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 14/genetics
MH  - DNA/chemistry/genetics
MH  - Female
MH  - Gene Expression
MH  - Genes/*genetics
MH  - Genetic Variation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Molecular Sequence Data
MH  - Promoter Regions, Genetic
MH  - RNA/genetics/metabolism
MH  - Sequence Alignment
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
MH  - Tyrosine/blood
MH  - cis-trans-Isomerases/*genetics
EDAT- 1999/06/22 00:00
MHDA- 1999/06/22 00:01
CRDT- 1999/06/22 00:00
PHST- 1999/06/22 00:00 [pubmed]
PHST- 1999/06/22 00:01 [medline]
PHST- 1999/06/22 00:00 [entrez]
AID - 10.1006/geno.1999.5832 [doi]
AID - S0888-7543(99)95832-9 [pii]
PST - ppublish
SO  - Genomics. 1999 Jun 15;58(3):263-9. doi: 10.1006/geno.1999.5832.