| First Author | Migchielsen AA | Year | 1995 |
| Journal | Nat Genet | Volume | 10 |
| Issue | 3 | Pages | 279-87 |
| PubMed ID | 7670465 | Mgi Jnum | J:26731 |
| Mgi Id | MGI:74163 | Doi | 10.1038/ng0795-279 |
| Citation | Migchielsen AA, et al. (1995) Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat Genet 10(3):279-87 |
| abstractText | We report the generation and characterization of mice lacking adenosine deaminase (ADA). In humans, absence of ADA causes severe combined immunodeficiency. In contrast, ADA-deficient mice die perinatally with marked liver-cell degeneration, but lack abnormalities in the thymus. The ADA substrates, adenosine and deoxyadenosine, are increased in ADA-deficient mice. Adenine deoxyribonucleotides are only modestly elevated, whereas S-adenosylhomocysteine hydrolase activity is reduced more than 85%. Consequently, the ratio of S-adenosylhomocysteine (AdoMet) to S-adenosyl homocysteine (AdoHcy) is reduced threefold in liver. We conclude that ADA plays a more critical role in murine than human fetal development. The murine liver pathology may be due to AdoHcy-mediated inhibition of AdoMet-dependent transmethylation reactions. |
