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14 records found


Taxon: Human

Chromosome: 19

Location: 19p13.2

Gene: DNMT1

Description: Monoallelic methylation of the promoter of the somatic (long) isoform of DNMT1 (DNA (cytosine-5-)-methyltransferase 1) has been repeatedly detected in human placentas (Yuen RK et al, 2011; Novakovic B et al, 2010; Das R et al, 2013).
Das R et al (2013) used bisulphite sequencing to confirm allele-specific methylation (mostly) in three placentas and in one case the methylated allele was found to be maternal (Figure 3). Oocytes show methylation and sperm do not show methylation at this promoter (Okae H et al, 2014). Using triploid and molar placentas Yuen RK et al (2011) showed results consistent with maternal methylation. Previously Novakovic B et al (2010) detected examples of both methylated and unmethylated maternal and paternal alleles in several heterozygous samples and concluded that DNMT1 was not imprinted, but in a subsequent publication refer to DNMT1 as being imprinted (Novakovic B & Saffery R, 2013).
Das R et al (2013) reported monoallelic expression in all 8 informative placentas and paternal expression confirmed in all 4 informative cases. Yuen RK et al (2011) showed monoallelic paternal in one informative case.

Category: Imprinted genes

Links: Gene   Record:1377 Last Modified 3/3/2015

Taxon: Human

Chromosome: 19

Location: 19q

Gene: Oligodendrogliomas

Description: Portions of 19q are frequently deleted in oligodendrogliomas. There is evidence that some loci on 19q are imprinted and hence putative tumour suppressor genes in this region may be monoallelically expressed. In one study 100% of deletions were paternal (6/6) suggesting they were preferentially lost (Sanson M et al. 2002). However a subsequent study showed only 40% of deletions were paternal (4/10) demonstrating no preferential loss of 19q (Hartmann C et al. 2003). A further study by Sanson's group confirmed findings by Hartmann et al, with 15 more parental losses showing a random distribution. RT-PCR analysis of the paternally expressed 19q gene PEG3, showed low expression in tumours losing paternal 19q, compared to those with maternal loss of 19q and intact tumours, demonstrating that imprinting was being maintained in these cells (Trouillard O et al,2004).

Category: Parental effect

Links: Record:469 Last Modified 28/01/2005

Taxon: Human

Chromosome: 19

Location: 19q13

Gene: Obesity, BMI

Description: A genome-wide linkage analysis for obesity (BMI) in Caucasians "suggested" maternal linkage (LOD = 1.81) at 19q13 compared to paternal linkage (LOD = 0.06; Guo YF et al, 2006).

Category: Parental effect

Record:1239 Last Modified 4/30/2010

Taxon: Human

Chromosome: 19

Location: 19q13.1

Gene: "Progressive diaphyseal dysplasia"

Description: Progressive diaphyseal dysplasia (Engelmann disease). Imprinting and/or paternal-specific repeat expansion has been proposed to explain phenotypic variability and possible anticipation in a three generation family (Saraiva JM, 1997).

Category: Other

Links: OMIM   Record:65 Last Modified 4/30/2010

Taxon: Human

Chromosome: 19

Location: 19q13.1

Gene: AXL (provisional evidence)

Description: AXL (a receptor tyrosine kinase). Pyrosequencing data suggested that the promoter region of AXL contains a paternally methylated DMR. One of 4 heterozygous individuals showed preferential expression from the maternal. Studies on mouse embryos support the presence of imprinting (Choufani S et al, 2011).

Category: Imprinted genes

Links: Gene  Unigene   Record:1267 Last Modified 6/6/2011

Taxon: Human

Chromosome: 19

Location: 19q13.2

Gene: LGALS14

Description: LGALS14 (lectin, galactoside-binding, soluble, 14) was reported as showing possible imprinting (Metsula T et al, 2014). Our judgement is that there is insufficient evidence to include LGALS14 as an imprinted gene at this time.

Category: Other

Links: Gene   Record:1380 Last Modified 3/3/2015

Taxon: Human

Chromosome: 19

Location: 19q13.3

Gene: Myotonic dystrophy

Description: In myotonic dystrophy families contraction of a CTG repeat occurred in 10% of paternal transmissions and in 3% of maternal transmissions, whereas anticipation was observed more frequently in maternal transmissions (85%) than in paternal transmissions (37%) (Ashizawa T et al, 1994).

Category: Other

Links: OMIM   Record:221 Last Modified 4/30/2010

Taxon: Human

Chromosome: 19

Location: 19q13.4

Gene: NLRP2 (provisional data)

Description: By pyrosequencing analysis, NLRP2 (NLR family, pyrin domain containing 2) showed subtle preferential expression of the maternal allele in 5 of 8 placentas, and allelic imbalance in the heart and kidney from two fetuses (Bjornsson HT et al, 2008). Data from two somatic issues are insufficient to demonstrate imprinting.
Note: Expression studies in the placenta carry the risk that preferential maternal expression reflects maternal decidual contamination of the specimen.
Baran Y et al (2015) found that although NLRP2 was monoallelically expression, expression showed a mixed parent of origin, indicating that it is not imprinted.

Category: Other

Links: Gene   Record:1248 Last Modified 11/25/2018

Taxon: Human

Chromosome: 19

Location: 19q13.41

Gene: anti-MIR371-373 (anti-miR-371-3)

Description: anti-MIR371-373 (anti-miR-371-3; a transcript antisense to MIR371, MIR372 and MIR373) was significantly downregulated in two parthenogenetic stem cell lines compared with two normal pluripotent stem cells. Strand specific RT-PCR of two independent WT-PSC lines, showed monoallelic expression of the antisense strand (Stelzer Y et al, 2013).
The authors concluded that anti-miR-371-3 is imprinted and paternally expressed, but more data are required before this claim can be substantiated.

Category: Other

Links: Gene   Record:1405 Last Modified 1/26/2016

Taxon: Human

Chromosome: 19

Location: 19q13.42

Gene: C19MC

Description: C19MC is the largest human microRNA gene cluster discovered to date. This 100-kb long cluster consists of 46 tandemly repeated, primate-specific pre-miRNA genes (Bortolin-Cavaille ML et al, 2009). C19MC is preferentially expressed from the paternally inherited chromosome in the placenta. This locus adds to the list of imprinted repeated small RNA clusters (Noguer-Dance M et al, 2010).

Category: Imprinted genes

Links: Gene   Record:1266 Last Modified 11/14/2011

Taxon: Human

Chromosome: 19

Location: 19q13.42 53.5 Mb

Gene: ZNF331 (ZNF463) (provisional evidence)

Description: Data regarding the imprinting of ZNF331 (ZNF463; zinc finger protein 331) are contradictory.
It was reported to be maternally expressed in lymphoblastoid cell lines from five children in a single CEPH family. Six unrelated individuals showed monoallelic expression of SNPs in the 3' end of ZNF331, but biallelic expression of SNP in the 5' UTR (Pant PV et al, 2006).
In contrast the same group later reported a pattern of differential allelic expression that was suggestive of paternal expression (Pollard KS et al, 2008).
Diplas AI et al (2009) reported that ZNF331 was expressed but not imprinted in the placenta.
Daelemans C et al (2010) reported imprinting of ZNF331 with maternal expression in human placenta. Using two SNPs on the Illumina system, rs8100247 (exon 1, 5'UTR) and rs12982082 (exon 2, 5'UTR), ZNF331 showed a consistent pattern of maternal origin for the expressed allele. RT-PCR amplification and Sanger sequencing of SNPs in two exons of the ZNF331 transcript (exon 1, 5'UTR and exon 7, CDS) confirmed the maternal expression.
Petre G et al (2018) reported a case with IUGR associated with a paternally inherited duplication of a 1.06-Mb region containing ZNF331. The methylation pattern of two methylation-specific MLPA probes within one of the CpG islands was consistent with maternal methylation, and the authors assumed paternal expression based on previous literature.
Three reference sequence transcripts of ZNF331 are known. The apparent discrepancies in the parent-of-origin may be attributable to isoform specific imprinting (additional data are needed). Biallelic expression was detected in the 5'UTR of the most 5' transcript (NM_018555).

Category: Imprinted genes

Links: Gene   Record:1106 Last Modified 9/24/2018

Taxon: Human

Chromosome: 19

Location: 19q13.43

Gene: USP29, ZIM3, ZNF264

Description: Location of the human homologues of mouse Usp29, Zim3 and Zfp264, which are imprinted in mice, but no human data are available (Kim J et al, 2000; Kim J et al, 2001).

Category: Other

Record:218 Last Modified 5/27/2007

Taxon: Human

Chromosome: 19

Location: 19q13.43

Gene: MIMT1 (ITUP1, MIM1, IMPO1)

Description: MIMT1 (MER1 repeat containing imprinted transcript 1), showed exclusive paternal expression in cultured lymphoblasts from four persons, monoallelic expression in five of five brain tissues and expression from paternal, but not maternal alleles, in mouse A9 hybrids containing human chromosome 19 (Maegawa S et al, 2004).
Under the name MIM1, MIMT1 is discussed by Kim J et al (2007), who report its imprinting (paternal expression) in cows.

Category: Imprinted genes

Links: Gene   Record:497 Last Modified 8/3/2015

Taxon: Human

Chromosome: 19

Location: 19q13.43 62.03 Mb

Gene: PEG3 (PW1), ZIM2

Description: PEG3 (PW1) and ZIM2 (PEG3-beta isoform) are paternally expressed in a wide variety of fetal and adult tissues (adrenal gland, brain, heart, kidney, lung, placenta, liver, skeletal muscle, and gut) (Murphy SK et al, 2001; van den Veyver IB et al, 2001).
Note that mouse Zim2 is maternally expressed due to insertion of Zim1 between Peg3 and Zim2.
However, Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast cell lines.

Category: Imprinted genes

Links: GENE(ZIM2)  GENE(PEG3)   Record:256 Last Modified 11/1/2015

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