Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase.

Abstract	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.
Authors	J M Fernández-Cañón, J Hejna, C Reifsteck, S Olson, M Grompe
Journal	Genomics (Genomics) Vol. 58 Issue 3 Pg. 263-9 (Jun 15 1999) ISSN: 0888-7543 [Print] United States
PMID	10373324 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Copyright	Copyright 1999 Academic Press.
Chemical References	Tyrosine RNA DNA cis-trans-Isomerases maleylacetoacetate isomerase
Topics	Alleles Amino Acid Metabolism, Inborn Errors (enzymology, genetics) Amino Acid Sequence Animals Base Sequence Blotting, Northern Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 14 (genetics) DNA (chemistry, genetics) Female Gene Expression Genes (genetics) Genetic Variation Humans In Situ Hybridization, Fluorescence Male Mice Mice, Inbred C57BL Molecular Sequence Data Promoter Regions, Genetic RNA (genetics, metabolism) Sequence Alignment Sequence Analysis, DNA Sequence Homology, Amino Acid Tissue Distribution Tyrosine (blood) cis-trans-Isomerases (genetics)

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