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© Xavier Montagutelli, Institut Pasteur
Publication : Genomics

Ferrochelatase structural mutant (Fechm1Pas) in the house mouse.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Genomics - 01 Jun 1993

Boulechfar S, Lamoril J, Montagutelli X, Guenet JL, Deybach JC, Nordmann Y, Dailey H, Grandchamp B, de Verneuil H,

Link to Pubmed [PMID] – 8325637

Genomics 1993 Jun; 16(3): 645-8

The molecular basis of an inherited defect of ferrochelatase in mouse (Fechm1Pas/Fechm1Pas, described by Tutois et al., 1991, J. Clin. Invest. 88:1730-1736) was investigated. cDNA clones encoding ferrochelatase, isolated by amplification of the mRNA from the liver of a mutant mouse using the polymerase chain reaction, were sequenced by the dideoxynucleotide chain-termination method. All the clones carried a T to A transversion at nucleotide 293, leading to a methionine to lysine substitution at position 98 in the protein (mutation M98K). Hybridization with allele-specific oligonucleotides (ASOs) confirmed the mutation at the cDNA and genomic levels. Finally, expression of the mutant ferrochelatase protein in E. coli demonstrated a marked deficiency in activity in agreement with the activity of the deficient enzyme in vivo. This Fechm1Pas/Fechm1Pas mutant mouse represents a useful model for studying the pathophysiological feature of the human disease and the first accessible model for gene therapy in the field of porphyrias.

https://pubmed.ncbi.nlm.nih.gov/8325637