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11 records found


Taxon: Human

Chromosome: 13

Location:

Gene: "UPD"

Description: Cases of normal children with maternal UPD of chromosome 13 have been reported (Slater H et al 1994; Stallard R et al 1995).
Two unrelated Spanish patients with prelingual hearing impairment were identified with maternal UPD of chromosome 13 that unmasked a 35delG mutation in the GJB2 gene. GJB2 encodes connexin26, an important component of intercellular gap junctions (Alvarez A et al 2003).

Yan D et al (2007) also report a case of hearing loss due to a homozygous 35delG mutation in GJB2, however this time as a result of paternal UPD of chromosome 13.
Berend SA et al (1999) report two cases of normal individuals with paternal UPD of chromosome 13.
Paternal UPD of chromosome 13 has been identified prenatally in children who have been born phenotypically normal (Järvelä I et al 1998; Soler A et al 2000). Paternal UPD of chromosome 13 in a patient revealed a mutation in the SACS gene, resulting in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (Anesi L et al 2011).

There is no evidence to suggest that there are any phenotypically important imprinted genes on chromosome 13.

Category: Disomy (UPD)

Record:40 Last Modified 1/23/2017

Taxon: Human

Chromosome: 13

Location: 13q12

Gene: "Bipolar affective disorder"

Description: Preferential sharing of maternal 13q12 alleles was reported in a genome-wide scan for linkage to bipolar affective disorder (Maximum likelihood score = 3.05) (McInnis M.G, et al 2003).

Category: Parental effect

Links: Record:418 Last Modified 16/11/2003

Taxon: Human

Chromosome: 13

Location: 13q14

Gene: RB1

Description: Transcript 2B of RB1 is imprinted and paternally expressed whereas the main RB1 transcript shows preferential maternal expression (Kanber D et al, 2009). A DMR (PPP1R26P1) within a 1.2 kb CpG island (CpG 85) within intron 2 of RB1 is derived from a retrotransposition of part of exon 3 and exon 4 of PPP1R26 (KIAA0649). In 5 individuals this CpG island was methylated on the maternal allele and unmethylated on the paternal allele. CpG 85 contains a novel start exon (2B). Limited evidence suggests paternal expression of the 2B-transcript which is postulated to interfere with the paternal full length RB1 transcript.
Maternal methylation of CpG 85 has been confirmed by Nakabayashi K et al (2011) and Eloy P et al (2016).
Prickett AR et al (2015) reported hypermethylation of a CpG island (1 kb from the reported DMR) in 13/18 patients with Silver Russell syndrome.
Previous evidence suggested parent-of-origin effects on the transmission of retinoblastoma susceptibility in humans (Naumova A et al, 1994), and in mice (earlier onset of tumours when mutant Rb is paternally inherited) (Nikitin AY et al, 1997). This parent of origin effect may be more prominent for hypomorphic alleles (Eloy P et al, 2016; Imperatore V et al, 2018).
In isolated unilateral retinoblastoma, tumours having loss of the maternally derived RB1 allele had an earlier age of onset than those having paternal loss (Schuler A et al, 2005).
In an unexplained observation, the parental origin of a chromosomal rearrangement near RB affected the NruI restriction enzyme digestion pattern (Blanquet V et al, 1991).
De novo mutations of RB preferentially occur during male gametogenesis - this is not usually regarded as an imprinting effect (see parental origin of de novo mutations section of this database).

Category: Imprinted genes

Links: Gene  OMIM    Record:38 Last Modified 4/23/2018

Taxon: Human

Chromosome: 13

Location: 13q14

Gene: HTR2A

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

Taxon: Human

Chromosome: 13

Location: 13q14.12

Gene: PHF11 (LOC51131)

Description: Yang HH and Lee MP (2004) found monoallelic expression of PHF11 (PHD finger protein 11, LOC51131) in fetal tissue(s). Given its location at 13q14 they raise the possibility that it might be imprinted (it is approximately 3 Mb from HTR2A, a gene with disputed imprinting).

Category: Other

Links: Gene   Record:504 Last Modified 29/06/2004

Taxon: Human

Chromosome: 13

Location: 13q14.2

Gene: "Asthma"

Description: D13S153 showed significant differences in linkage with atopy and asthma between maternal and paternal alleles, suggestive of maternal imprinting (Strauch K et al, 2001).

Category: Parental effect

Record:1247 Last Modified 6/27/2010

Taxon: Human

Chromosome: 13

Location: 13q14.2

Gene: LPAR6

Description: Baran Y et al (2015) found evidence of imprinting of LPAR6 (lysophosphatidic acid receptor 6) in EBV-transformed lymphocytes. Biallelic expression of LPAR6 was reported in multiple other tissues (subcutaneous adipose, visceral adipose, adrenal gland, aorta, coronary artery, tibial artery, brain, mammary tissue, transverse colon, oesophagus mucosa, oesophagus muscularis, fibroblasts, atrial appendage, left ventricle, liver, lung, skeletal muscle, tibial nerve, ovary, pancreas, prostate, pituitary, not sun exposed skin, sun exposed skin, stomach, testis, thyroid, uterus, vagina, whole blood and T cells).

Category: Imprinted genes

Links: Gene Record:1490 Last Modified 8/3/2017

Taxon: Human

Chromosome: 13

Location: 13q14.2-q14.3

Gene: FLJ13639

Description: Yang HH and Lee MP (2004) found monoallelic expression of the hypothetical protein FLJ13639 in fetal tissue(s). Given its location at 13q14 they raise the possibility that it might be imprinted (it is approximately 5 Mb from HTR2A, a gene with disputed imprinting).

Category: Other

Links: Gene   Record:505 Last Modified 29/06/2004

Taxon: Human

Chromosome: 13

Location: 13q21

Gene: SCA8

Description: The SCA8 trinucleotide repeat, involved in spinocerebellar ataxia, shows contraction in association with paternal transmission and expansion in association with maternal transmission (Koob MD et al, 1999). This is not usually regarded as an imprinting effect.

Category: Other

Record:237 Last Modified 3/12/2015

Taxon: Human

Chromosome: 13

Location: 13q21

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, evidence for a possible maternal linkage effect for alcoholism was detected at 62 cM on chromosome 13 (Strauch K et al, 2005).

Category: Parental effect

Links: Record:1028 Last Modified 7/2/2006

Taxon: Human

Chromosome: 13

Location: 13q32

Gene: Obesity, BMI

Description: A genome-wide parent-of-origin linkage study for obesity (BMI, body mass index, waist circumference) was carried out in European American (1,297 individuals from 260 families), German (370 from 89 families) and African American samples (277 from 52 samples). For quantitive trait analysis a paternal effect was observed at 13q32, with a single point LOD score of 4.79 and a multipoint score of 3.72 for body-mass-index (Dong C et al, 2005).

Category: Parental effect

Links: Record:1011 Last Modified 6/18/2007

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