Imprinted Gene Catalogue Banner

12 records found


Taxon: Human

Chromosome: 18

Location:

Gene: "UPD"

Description: One case of segmental UPD of chromosome 18 has been identified. The proband received two recombinant chromosomes 18. The maternal chromosome had dup(18p)/del(18q) and the paternal chromosome had dup(18q)/del(18p). This case was detected prenatally and the healthy proband was followed up until the age of 20 months (Kariminejad et al 2011).

Category: Disomy (UPD)

Record:1411 Last Modified 1/27/2017

Taxon: Human

Chromosome: 18

Location: 18p11-q21.1

Gene: "Adult height"

Description: Evidence for an imprinting effect on human adult height was obtained in the 18p11-21 region, especially at D18S542, but the effect appeared to be reduced when sex-specific maps were used (Mukhopadhyay N and Weeks DE, 2003).

Category: Parental effect

Links: Record:500 Last Modified 17/06/2004

Taxon: Human

Chromosome: 18

Location: 18p11.2

Gene: GNAL

Description: GNAL (guanine nucleotide binding protein, alpha activating activity polypeptide, olfactory type) has two CpG islands that have been reported to show methylated and unmethylated alleles in brain and blood (Corradi JP et al, 2005).

Category: Other

Links: Gene   Record:1013 Last Modified 9/11/2005

Taxon: Human

Chromosome: 18

Location: 18p11.21

Gene: Differentially methylated region

Description: This region contains a CpG island that is differentially methylated in hydatidiform moles (paternal origin) and complete ovarian teratomas (maternal origin) (Strichman-Almashanu LZ et al, 2002). The original paper refer to clone 1-6 (AF484567) located on 19p13.1 but the clone aligns to a pseudogene of SSBP4 on 18p.

Category: DMR or ICR

Links: Yale pseudogenes   Record:314 Last Modified 3/12/2015

Taxon: Human

Chromosome: 18

Location: 18p11.31

Gene: “Type II diabetes susceptibility locus”

Description: Analysis of maternal transmission to obese diabetics showed linkage to a region on 18p with a peak LOD score of 2.48 at the marker D18S1132(AFMB329WD5) with no evidence for linkage with paternal transmission (Reynisdottir I, et al. 2003).

Category: Parental effect

Record:432 Last Modified 14/11/2003

Taxon: Human

Chromosome: 18

Location: 18q

Gene: "18q- syndrome"

Description: There is preferential loss (29 of 34 cases) of the paternal allele in de novo cases of 18q- syndrome possibly reflecting an increased frequency of chromosomal breakage in male germ cells (Cody JD et al, 1997).

Category: Other

Links: OMIM   Record:238 Last Modified 4/30/2010

Taxon: Human

Chromosome: 18

Location: 18q11

Gene: Clone L3

Description: Clone L3 is a differentially methylated sequence in human 18q11, a region homologous to the murine region containing Impact (Landers M, Am.J.Hum.Genet. 1998;63(4 suppl):A22).

Category: DMR or ICR

Record:152 Last Modified 3/12/2015

Taxon: Human

Chromosome: 18

Location: 18q11.1

Gene: OSBPL1A, oxysterol binding protein-like 1A

Description: Oxysterol-binding protein-like 1A (OSBPL1A) showed mild preferential expression of the maternal allele (61-77%) in 7/10 placental samples (Bjornsson HT et al, 2008).
Note: In placental samples, there is a risk that apparent preferential maternal expression reflects the presence of maternal decidua in the samples.

Category: Other

Links: Gene   Record:1249 Last Modified 6/27/2010

Taxon: Human

Chromosome: 18

Location: 18q11.2-q12.1

Gene: IMPACT

Description: IMPACT (impact RWD domain protein) is reported to be not imprinted (expressed biallelically) in humans (Okamura K et al, 2000). Since this region shows possible linkage to bipolar affective disorder, which might show parent-of-origin effects, IMPACT has been proposed to be a candidate for bipolar affective disorder (Kosaki K et al, 2001). Impact is reported to be imprinted in mice.

Category: Other

Links: Gene   Record:214 Last Modified 2/11/2017

Taxon: Human

Chromosome: 18

Location: 18q21.1

Gene: TCEB3C (Elongin A3)

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

Links: Gene   Record:312 Last Modified 1/8/2016

Taxon: Human

Chromosome: 18

Location: 18q22

Gene: "Bipolar affective disorder"

Description: Preferential sharing of paternal 18q22 alleles was reported in a genome-wide scan for linkage to bipolar affective disorder (Maximum likelihood score = 1.51) (McInnis MG, et al 2003).

Category: Parental effect

Links: Record:417 Last Modified 16/11/2003

Taxon: Human

Chromosome: 18

Location: 18q23

Gene: Differentially methylated region

Description: This region contains a CpG island that is differentially methylated in hydatidiform moles (paternal origin) and complete ovarian teratomas (maternal origin) (Strichman-Almashanu LZ et al, 2002).

Category: DMR or ICR

Record:313 Last Modified 3/12/2015

Return to the Search Engine.

Return to return to the front page.


(Format File = Record.html)