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Gene Review:

Mod2 - malic enzyme complex, mitochondrial

Mus musculus

Synonyms: Cd243, Mdr, Mdr-1, Mod-2, Mod-2r, ...

Eicher, E.M. et al., Juriloff, D.M. et al., Bernstine, E.G. et al., Bernstine, E.G. et al., Smit, J.W. et al., et al.

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Disease relevance of Mod2

Mdr P-glycoproteins are not essential for biliary excretion of the hydrophobic heme precursor protoporphyrin in a griseofulvin-induced mouse model of erythropoietic protoporphyria [1].

High impact information on Mod2

Mdr1a(+/-)/1b(+/-) females were mated with Mdr1a(+/-)/1b(+/-) males to obtain fetuses of 3 genotypes (Mdr1a(+/+)/1b(+/+), Mdr1a(+/-)/1b(+/-), and Mdr 1a(-/-)/1b(-/-)) in a single mother [2].
A regulatory gene (Mdr-1), closely linked to Mod-2 on chromosome 7, determines the rate of mitochondrial malic enzyme synthesis in brain [3].
Thus we have unambiguously demonstrated that Mdr-1 is cis-active in its control of the expression of the Mod-2 structural gene [3].
Its linkage to Hbb and c places it in the same region of the chromosome as Mod-2, the structural gene for mitochondrial malic enzyme [4].
Genetic analysis has established that the locus controlling the amount of enzyme in brain (Mdr-1) is located on chromosome 7 [4].

Biological context of Mod2

Gene duplication, with and without the influence of X-inactivation, was achieved using a translocation that involves the insertion of a portion of Chr 7, including Mod-2, into the X, T(X;7)1Ct [5].
The deletion of the cBc mutation is anticipated to be large as the mutation has inactivated the Mod-2 locus 2 cM away, and an essential locus for post-implantation survival outside the c-Mod-2 interval, whereas the c2Bc mutation is viable and fertile in homozygotes [6].
Moreover, some loci (e.g., Fes and Mod-2) which are close to c in the mouse appear to be on human chromosomes other than 11 [7].
This includes many novel observations, including marked downregulation of Oats in kidney, as well as upregulation of many Mrp and Mdr family members in all three tissues [8].

Anatomical context of Mod2

A 1:1 relationship for Mod-2 dosage and MOD-2 activity was found in heart mitochondria [5].

Other interactions of Mod2

The deletion mapping of the 23.3 probe places the Emv-23 locus between c and Mod-2, just proximal to a region important for male fertility and juvenile fitness [9].

References

Mdr P-glycoproteins are not essential for biliary excretion of the hydrophobic heme precursor protoporphyrin in a griseofulvin-induced mouse model of erythropoietic protoporphyria. Plösch, T., Bloks, V.W., Baller, J.F., Havinga, R., Verkade, H.J., Jansen, P.L., Kuipers, F. Hepatology (2002) [Pubmed]
Absence or pharmacological blocking of placental P-glycoprotein profoundly increases fetal drug exposure. Smit, J.W., Huisman, M.T., van Tellingen, O., Wiltshire, H.R., Schinkel, A.H. J. Clin. Invest. (1999) [Pubmed]
A cis-active regulatory gene in the mouse: direct demonstration of cis-active control of the rate of enzyme subunit synthesis. Bernstine, E.G., Koh, C. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
Regulation of mitochondrial malic enzyme synthesis in mouse brain. Bernstine, E.G., Koh, C., Lovelace, C.C. Proc. Natl. Acad. Sci. U.S.A. (1979) [Pubmed]
Influence of gene duplication and X-inactivation on mouse mitochondrial malic enzyme activity and electrophoretic patterns. Eicher, E.M., Coleman, D.I. Genetics (1977) [Pubmed]
Three spontaneous mutations at the albino locus in SELH/Bc mice. Juriloff, D.M., Porter, S.D., Harris, M.J. Genome (1994) [Pubmed]
Comparative genetics of albinism. Searle, A.G. Ophthalmic paediatrics and genetics. (1990) [Pubmed]
Alterations in transporter expression in liver, kidney, and duodenum after targeted disruption of the transcription factor HNF1alpha. Maher, J.M., Slitt, A.L., Callaghan, T.N., Cheng, X., Cheung, C., Gonzalez, F.J., Klaassen, C.D. Biochem. Pharmacol. (2006) [Pubmed]
Molecular cloning and mapping of the ecotropic leukemia provirus Emv-23 provides molecular access to the albino-deletion complex in mouse chromosome 7. Rinchik, E.M., Machanoff, R., Cummings, C.C., Johnson, D.K. Genomics (1989) [Pubmed]

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