Alternative titles; symbols
HGNC Approved Gene Symbol: ASMT
Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38) : X:1,615,059-1,643,081 (from NCBI)
Acetylserotonin methyltransferase (ASMT; hydroxyindole-O-methyltransferase; EC 2.1.1.4) catalyzes the final reaction in the synthesis of melatonin and is abundant in the pineal gland and retina (summary by Donohue et al., 1993).
Cavallo (1993) reviewed the physiologic role of the pineal gland and the pineal hormone melatonin (N-acetyl-5-methoxytryptamine).
Donohue et al. (1993) isolated a clone with sequence homology to bovine HIOMT from a human pineal cDNA library.
Using a cDNA probe in Southern blot analysis of a panel of human/rodent somatic cell hybrid DNAs, Yi et al. (1993) determined that the HIOMT gene is located on Xp, probably in the pseudoautosomal region of the human X (Xp22.3) and Y (Yp11.3). Several multiallelic RFLPs were detected at the locus; using these in 2-point and multipoint linkage analyses in the 40 CEPH families, Yi et al. (1993) confirmed the pseudoautosomal localization of the HIOMT gene and ordered the gene in close proximity to DXYS17 at a position about 600-800 kb from the pseudoautosomal boundary and about 1800-2000 kb from the telomere. Also see ASMTY (402500).
Cavallo, A. The pineal gland in human beings: relevance to pediatrics. J. Pediat. 123: 843-851, 1993. [PubMed: 8229515] [Full Text: https://doi.org/10.1016/s0022-3476(05)80377-4]
Donohue, S. J., Roseboom, P. H., Illnerova, H., Weller, J. L., Klein, D. C. Human hydroxyindole-O-methyltransferase: presence of LINE-1 fragment in a cDNA clone and pineal mRNA. DNA Cell Biol. 12: 715-727, 1993. [PubMed: 8397829] [Full Text: https://doi.org/10.1089/dna.1993.12.715]
Yi, H., Donohue, S. J., Klein, D. C., McBride, O. W. Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders. Hum. Molec. Genet. 2: 127-131, 1993. [PubMed: 8098975] [Full Text: https://doi.org/10.1093/hmg/2.2.127]