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

PH Roseboom, MAA Namboodiri, DB Zimonjic… - Molecular brain …, 1998 - Elsevier
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 …