Taxon:

Human

Gene:

LRRTM1 (provisional data)

Chromosome:

02

Location:

2p12

Description:

LRRTM1 (leucine rich repeat transmembrane neuronal 1) was reported to be imprinted with suppression of the maternal allele. LRRTM1 expression was detected in three A9 hybrid cell lines containing paternal chromosome 2 but not in three lines containing maternal chromosome 2. Monoallelic paternal expression was found in 4 of 4 unrelated EBV-transformed lymphoblastoid cell lines, and in 3 of 18 post-mortem brains, whereas 15/18 brains showed biallelic expression, suggesting either polymorphic imprinting or sampling differences (Francks C et al, 2007).
A significant association of a haplotype upstream of LRRTM1 was associated with human handedness in a set of dyslexic siblings, when the haplotype was inherited paternally (P=0.00002). The same haplotype is overtransmitted paternally to individuals with schizophrenia/schizoaffective disorder in a study of 1002 affected families (P=0.0014) (Francks C et al, 2007).
In mice, expression of Lrrtm1 was detected in cerebral cortex, cerebellum and brain stem, but it was biallelic (Francks C et al, 2007).
Given that 80% of human brains did not show imprinting, the reliance on data from cultured cells, and the lack of imprinting in mice, the imprinting status of LRRTM1 should be regarded as provisional. Independent validation would be helpful.

Category:

Imprinted genes

Record:

1142

Last Modified 1/24/2016

Links:

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