Taxon:

Human

Gene:

TCEB3C (Elongin A3)

Chromosome:

18

Location:

18q21.1

Description:

TCEB3C (TCEB3L2, Elongin A3, transcription elongation factor B polypeptide 3C) was reported to show monoallelic maternal expression in fetal lung, brain and spinal cord, incomplete preferential maternal expression in 2 of 3 fetal kidneys, and biallelic expression in intestine and liver (Strichman-Almashanu LZ et al, 2002). A total of four fetuses were studied.
TCEB3C was identified because of differential methylation between an ovarian teratoma (methylated) and a complete hydatidiform mole (unmethylated).
TCEB3C has been subject to gene duplication events (and/or difficulties in the genome assembly including for hg38). TCEB3C, TCEB3B, RP11-49K24.9, TCEB3CL and TCEB3CL2 show substantial sequence identity.
The primers used by Strichman-Almashanu LZ et al (2002) to demonstrate imprinting show 100% identity to TCEB3C, RP11-49K24.9, TCEB3CL and TCEB3CL2. The G/A polymorphism (rs148762104) used to distinguish the expressed alleles exists as a G within TCEB3C and RP11-49K24.9, and as an A within TCEB3CL and TCEB3CL2.
Given the uncertainty about the genomic sequence at this region, uncertainty about the veracity of the SNP (rs148762104), the small number of fetuses studied, and the variation within and between fetuses, there is insufficient evidence to categorise this gene as imprinted (note added Jan 2016). As an additional caution, the use of the same sequence image for the fetal gDNA in Fig 7 A and B is noted (Strichman-Almashanu LZ et al, 2002).
Li SS et al (2010) claimed that they confirmed monoallelic expression of TCEB3C expression in human embryonic stem cells, but their primers were designed against TCEB3B (although they are likely to cross hybridise).

Category:

Other

Record:

312

Last Modified 1/8/2016

Links:

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