Natural melatonin 'knockdown' in C57BL/6J mice: rare mechanism truncates serotonin N-acetyltransferase

作者：Roseboom PH; Namboodiri MAA; Zimonjic DB; Popescu NC; Rodriguez IR; Gastel JA; Klein DC^*

来源：Molecular Brain Research, 1998, 63(1): 189-197.

DOI：10.1016/S0169-328X(98)00273-3

• pineal
• retina
• C3H/HeJ
• circadian
• RNA splicing
• cryptic splice acceptor site

Pineal melatonin synthesis (serotonin --> N-acetylserotonin --> melatonin) is severely compromised in most inbred strains of mice, in many cases because serotonin is not acetylated by serotonin N-acetyltransferase (arylalkylamine N-acetyltransferase, AANAT). We have found that in the C57BL/6J strain, AANAT mRNA encodes a severely truncated AANAT protein, because a pseudo-exon containing a stop codon is spliced in. This is the first identification of a natural mutation which knocks down melatonin synthesis. The decrease in melatonin signaling may have been a selective factor in the development of laboratory strains of mice because melatonin can inhibit reproduction and modify circadian rhythmicity.

• 出版日期1998-12-10