Taxon:

Human

Gene:

HTR2A

Chromosome:

13

Location:

13q14

Description:

HTR2A (5-hydroxytryptamine (serotonin) receptor type 2A) was expressed exclusively from maternal alleles, that is, in fibroblasts of retinoblastoma patients with germ line deletions or translocations it was only expressed in those with a paternally derived deletion or translocation (5/5), but not in those with a maternal deletion (2/2). Promoter region methylation (partial) corresponded positively with expression (Kato MV et al 1996).
Imprinting of HTR2A may be polymorphic: in 4/18 human adult brain samples, HTR2A expression was monoallelic whereas in 14/18 it was biallelic (Bunzel R et al, 1998). Htr2a is imprinted in mouse (see mouse 14).
Lo HS et al, 2004 found mono-allelic expression in liver whereas Pastenin et al, 2004 found extreme allelic imbalances for HTR2A, but the inheritance pattern was inconsistent with genomic imprinting and they hypothesised that it may be due to random monoallelic expression. Fukuda Y et al, 2006 also found monoallelic expression or allelic imbalance of HTR2A in brain and peripheral blood lymphocytes and family studies excluded imprinting.
No association between HTR2A T102C with either schizophrenia or bipolar disorder was found under the assumption of a parent of origin effect (de Luca V et al, 2007).
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.

Category:

Other

Record:

39

Last Modified 7/15/2012

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