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Gene Review

Mmab  -  methylmalonic aciduria (cobalamin...

Mus musculus

Synonyms: 9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase, ATR, Cob(I)alamin adenosyltransferase, Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial, ...
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Disease relevance of Mmab

  • It yielded a gene on chromosome 12q24 that encodes a predicted protein of 250 amino acids with 45% similarity to PduO in Salmonella enterica, a characterized cob(I)alamin adenosyltransferase [1].
  • As ataxia telangiectasia and Rad3 related kinase (ATR) has been described as a marker for late-pairing chromosomes in mice, ATR distribution was analyzed in human meiocytes--spermatocytes, euploid oocytes and trisomic oocytes [2].

High impact information on Mmab

  • When DNA replication inhibitors are removed, ATR knockout cells proceed to mitosis but do so with chromosome breaks, indicating that ATR provides a key genome maintenance function in S phase [3].
  • In contrast to the IR-induced checkpoint, checkpoint delay in response to stalled DNA replication is intact in ATR knockout cells and ATR/ATM and ATR/p53 double-knockout cells [3].
  • We demonstrate that after IR treatment, ATR and ATM each contribute to early delay in M-phase entry but that ATR regulates a majority of the late phase (2-9 h post-IR) [3].
  • Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance [3].
  • These data show that ATR is essential for early embryonic development and must function in processes other than regulation of p53 [4].

Biological context of Mmab

  • A Cre/lox-conditional mouse line was generated to evaluate the role of ATR in checkpoint responses to ionizing radiation (IR) and stalled DNA replication [3].
  • Importantly, caspase-independent chromosome breaks are observed in ATR(-/-) cells prior to widespread apoptosis, implying that apoptosis is caused by a loss of genomic integrity [4].
  • Thus, AIMP3 plays crucial roles in p53-mediated tumor-suppressive response against oncogenic stresses via differential activation of ATM and ATR, and in the maintenance of genomic stability [5].
  • Based on these observations, next we investigated the role of upstream kinases, ATM/ATR and DNA-PK, which act as sensors for UVB-induced DNA damage and transduce signals leading to DNA repair or apoptosis [6].
  • In the mutant pachytene cells, ATR is usually present at nonsex chromosomal sites, where it colocalizes with aberrant sites of H2AX phosphorylation; in these cells, there is MSCI failure [7].

Anatomical context of Mmab


Associations of Mmab with chemical compounds

  • A bovine liver cDNA expression library was screened for clones that complemented an ATR-deficient bacterial strain for color formation on aldehyde indicator medium, and four positive clones were isolated [8].
  • Subsequent studies showed that the human cDNA clone complemented an ATR-deficient bacterial mutant for Ado-B12-dependent growth on 1,2-propanediol [8].
  • Pretreatment of ATR with E(2) shifted the carbachol concentration-response curve (CCRC) toward that of CTR [10].
  • Wortmannin, an inhibitor of DNA-dependent protein kinase (DNA-PK), dose-dependently inhibited the reducing effect of NO, while caffeine, an inhibitor of ATM kinase and ATR kinase, did not [11].


  1. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Dobson, C.M., Wai, T., Leclerc, D., Kadir, H., Narang, M., Lerner-Ellis, J.P., Hudson, T.J., Rosenblatt, D.S., Gravel, R.A. Hum. Mol. Genet. (2002) [Pubmed]
  2. Chromosome 18 pairing behavior in human trisomic oocytes. Presence of an extra chromosome extends bouquet stage. Roig, I., Robles, P., Garcia, R., Martínez-Flores, I., Cabero, L., Egozcue, J., Liebe, B., Scherthan, H., Garcia, M. Reproduction (2005) [Pubmed]
  3. Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance. Brown, E.J., Baltimore, D. Genes Dev. (2003) [Pubmed]
  4. ATR disruption leads to chromosomal fragmentation and early embryonic lethality. Brown, E.J., Baltimore, D. Genes Dev. (2000) [Pubmed]
  5. AIMP3 haploinsufficiency disrupts oncogene-induced p53 activation and genomic stability. Park, B.J., Oh, Y.S., Park, S.Y., Choi, S.J., Rudolph, C., Schlegelberger, B., Kim, S. Cancer Res. (2006) [Pubmed]
  6. Silibinin up-regulates DNA-protein kinase-dependent p53 activation to enhance UVB-induced apoptosis in mouse epithelial JB6 cells. Dhanalakshmi, S., Agarwal, C., Singh, R.P., Agarwal, R. J. Biol. Chem. (2005) [Pubmed]
  7. BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Turner, J.M., Aprelikova, O., Xu, X., Wang, R., Kim, S., Chandramouli, G.V., Barrett, J.C., Burgoyne, P.S., Deng, C.X. Curr. Biol. (2004) [Pubmed]
  8. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. Leal, N.A., Park, S.D., Kima, P.E., Bobik, T.A. J. Biol. Chem. (2003) [Pubmed]
  9. The association of ATR protein with mouse meiotic chromosome cores. Moens, P.B., Tarsounas, M., Morita, T., Habu, T., Rottinghaus, S.T., Freire, R., Jackson, S.P., Barlow, C., Wynshaw-Boris, A. Chromosoma (1999) [Pubmed]
  10. Estrogen reduces carbachol-induced constriction of asthmatic airways by stimulating large-conductance voltage and calcium-dependent potassium channels. Dimitropoulou, C., White, R.E., Ownby, D.R., Catravas, J.D. Am. J. Respir. Cell Mol. Biol. (2005) [Pubmed]
  11. Effect of nitric oxide on gamma-ray-induced micronucleus frequency in RAW264.7 cells. Tokuzumi, S., Hori, M., Monobe, M., Hosoi, Y., Kojima, S. Radiat. Res. (2005) [Pubmed]
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