Imprinted Gene Catalogue Banner

32 records found


Taxon: Human

Chromosome: 06

Location:

Gene: "UPD"

Description: Eggermann et al have suggested that the apparent upd(6)mat “phenotype" is a result of placental trisomy 6 mosaicism (Eggermann T et al, 2017).
Maternal UPD was detected in a developmentally normal patient (van den Berg-Loonen EM et al 1996) and has been associated with IUGR (Spiro RP et al 1999; Lazier J et al 2016).
Cockwell AE et al (2006) described a case of mosaic trisomy 6 with mosaic maternal heterodisomy, that had an atrial septal defect, exomphalos and intrauterine death at 23 weeks gestation.
Salahshourifar I et al (2010) reported isolated cleft lip and palate in a boy with maternal heterodisomy of chromosome 6.
A Japanese patient had 3M syndrome (characterised by severe pre- and post-natal growth retardation) due to maternal UPD that revealed mutations in the CUL7 gene (Sasaki K et al 2011).
In a cohort of patients with cone disorders (cone dystrophy (CD) and cone-rod dystrophy (CRD)) homozygosity mapping and segregation analysis revealed maternal UPD in a patient. In this case, maternal UPD unmasked a mutation in the TULP1 gene (Roosing S et al 2013).

Paternal UPD is discussed in the 6q entry on transient neonatal diabetes mellitus (TNDM).

Category: Disomy (UPD)

Record:15 Last Modified 1/22/2018

Taxon: Human

Chromosome: 06

Location:

Gene: clone L59

Description: Clone 59 is from a differentially methylated region on human 6 (Landers M, Am.J.Hum.Genet. 1998;63(4 suppl):A22).

Category: DMR or ICR

Record:149 Last Modified 3/12/2015

Taxon: Human

Chromosome: 06

Location: 6p

Gene: "Psoriasis"

Description: Probands with psoriasis were more likely to have an affected father than an affected mother, there was evidence of anticipation especially when paternally inherited, and evidence for linkage in sibling pair analysis was greatest when the allele was of paternal origin (Burden AD et al, 1998).

Category: Parental effect

Record:169 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p11.2

Gene: PRIM2 (PRIM2A) (disputed)

Description: PRIM2 (PRIM2A, primase, polypeptide 2) was monoallelically expressed from the maternal allele in lymphoblast cell lines from 9 children in two CEPH pedigrees. Four other heterozygotes showed monoallelic expression (Pant PV et al, 2006). All tested individuals expressed the "A" allele.
Chung J et al. (2012) report that PRIM2 is not imprinted in placenta or blood. They present convincing evidence that the apparent imprinting was attributable to pseudogene DNA.
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.

Category: Other

Links: Gene   Record:1096 Last Modified 7/15/2012

Taxon: Human

Chromosome: 06

Location: 6p21

Gene: "IgA deficiency"

Description: Females with IgA deficiency were more likely to produce offspring with deficiency than males were. This might be attributable to a non-genetic maternal effect, that is, the maternal production and transmission of anti-IgA antibodies (linked to IGAD1 on 6p21) which are associated with IgA deficiency. (Vorechovsky I et al, 1999).

Category: Parental effect

Record:171 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21

Gene: Isolated cleft lip with or without cleft palate

Description: Using a case-parent trio design, in isolated, nonsyndromic cleft lip with or without cleft palate, a block of 11 RUNX2-associated SNPs showed excess maternal transmission (Sull JW et al, 2008).

Category: Parental effect

Record:1192 Last Modified 4/4/2008

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HFE

Description: Females carriers of the hereditary haemochromatosis gene showed significantly higher serum iron/transferrin saturation and ferritin levels when the haemochromatosis allele had been paternally inherited, than when maternally inherited (Bulaj ZJ et al, 1996).

Category: Parental effect

Links: Gene   Record:164 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA class II genes and diabetes type I

Description: In type 1 diabetes, parental effects have been observed with respect to the inheritance of HLA class II alleles, for example an excess of maternal DR3 and paternal DR4 alleles (see each publication for details) (Deschamps I et al, 1990, Jos J et al, 1991, Margaritte-Jeannin P et al, 1995, Feugeas JP et al, 1996, Noble JA et al, 1996). Others dispute the occurrence of parental effects on the inheritance of HLA-encoded susceptibility (Bain SC et al, 1994, Undlien DE et al, 1995).

Category: Parental effect

Record:170 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA-DR3, HLA-DQ and coeliac (celiac) disease

Description: The sex of the parent transmitting the HLA-DR3 haplotype might influence the susceptibility to coeliac (celiac) disease (Petronzelli F et al, 1997).
Possible parent-or-origin specific effects at HLA-DQ on coeliac disease sex bias have been reported (Megiorni F et al, 2008).

Category: Parental effect

Record:183 Last Modified 1/21/2008

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA-DQ and type 1 diabetes susceptibility

Description: At the HLA-DQ locus, in offspring with type 1 diabetes: 1) maternal alleles were different from paternal alleles and 2) maternal alleles with the DQA1*0301-DQB1*0302 haplotype showed strong transmission disequilibrium with anti-GAD-positive type 1 diabetes, while paternal alleles did not. Note: only 28 nuclear family studied (Sasaki T et al, 1999).

Category: Parental effect

Record:248 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA class Ia antigens

Description: Human HLA-A and HLA-C genes showed no evidence of genomic imprinting, in contrast to reports from rats (Lenfant F et al, 1998).

Category: Other

Record:258 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA-odour preference

Description: Paternally inherited HLA alleles (A, B, C, DR and DQB1) influenced women's odour preference. Since the non-inherited paternal alleles and the maternal alleles did not influence odour choice, the preference was thought to be based on inheritance and not simply on postnatal exposure to HLA-associated odours (Jacob S et al, 2002).

Category: Parental effect

Record:291 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: BRD2 (EMJ1)

Description: Pal DK et al (2006) reported evidence for preferential maternal transmission of juvenile myoclonic epilepsy, both in families with evidence of linkage to the EJM1 locus (BRD2 gene) on 6p21.3 and in families without linkage (see also Greenberg DA et al, 2000). That is, the parental effect may not be attributable to BRD2 itself, but to a distinct modifier locus.

Category: Parental effect

Links: Gene   OMIM    Record:1021 Last Modified 4/30/2010

Taxon: Human

Chromosome: 06

Location: 6p21.3

Gene: HLA-DRB1*15 in multiple sclerosis

Description: HLA-DRB1*15 bearing MHC haplotypes increase risk of MS in people of Northern European descent. A significant over transmission of HLA-DRB1*15 from mothers was observed, suggesting that parent of origin effects at the MHC determine susceptibility to MS (Ramagopalan SV et al, 2007).

Category: Parental effect

Record:1159 Last Modified 11/5/2007

Taxon: Human

Chromosome: 06

Location: 6p25.2

Gene: FAM50B and FAM50B-AS

Description: FAM50B showed monoallelic expression from the paternal allele in all fetal tissues (brain, liver, placenta, kidney, heart, testis and adrenal gland) except the ovary. Further, an antisense transcript, FAM50B-AS, was monoallelically expressed from the paternal allele in conceptus brain (n=1), adult liver (n=1) and adult testis (n=1). (Zhang A et al, 2011). Maintenance of monoallelic expression was shown in adulthood in testis and liver (n=1). Maternal methylation in the placental, kidney, leukocytes and paternal expression in 6 placentas was confirmed by Nakabayashi K et al (2011).
FAM50B showed preferential expression from the paternal allele in placenta (Yuen RKC et al, 2011). Pyrosequencing of FAM50B in 12 normal placenta and 10 maternal blood samples showed consistent methylation of the maternal allele.

Category: Imprinted genes

Links: Gene   Record:1319 Last Modified 1/31/2017

Taxon: Human

Chromosome: 06

Location: 6p25.3-p24.3

Gene: "Intrauterine Growth-Restriction", F13A1 (factor XIII gene)

Description: A paternal transmission effect was observed for the Val34Leu polymorphism within F13A1 (the gene for coagulation factor XIII subunit A) in a cohort of 505 newborns with intrauterine growth-restriction, increasing the risk of IUGR by 70% compared to maternal transmission (Infante- Rivard C et al, 2005)

Category: Parental effect

Links: Gene   Record:1243 Last Modified 6/27/2010

Taxon: Human

Chromosome: 06

Location: 6q16.1

Gene: NDUFAF4 (C6orf66)

Description: Transcripts from BI772172 (thought to be from 7q21 but from NDUFAF4; hormone-regulated proliferation-associated 20 kDa protein, My013, HRPAP2, HSPC125, bA22L21.1) were detected only from the maternal allele in human-mouse monochromosomal hybrids. Direct evidence of imprinting was not obtained (Okita C et al, 2003).

Category: Other

Links: Gene   Record:604 Last Modified 4/27/2010

Taxon: Human

Chromosome: 06

Location: 6q16.3-21

Gene: "Bipolar affective disorder"

Description: A genome-wide linkage analysis of bipolar affective disorder from 245 families revealed evidence of linkage at 6q16.3-22.1 (Dick DM et al, 2003). A further study confirming this linkage analysis also observed a maternal parent-of-origin effect at this locus at markers D6S1021 and D6S474 (Schulze TG et al 2004).

Category: Parental effect

Links: Record:607 Last Modified 2/2/2006

Taxon: Human

Chromosome: 06

Location: 6q21

Gene: LIN28B (provisional)

Description: LIN28B (lin-28 homolog B) showed monoallelic expression in at least 9 placentas. In two cases the expressed allele could be determined and was paternal. Further investigation in 4 placentas showed complete methylation of the maternal allele and unmethylation of the paternal allele (Barbaux S et al, 2012). LIN28B is not imprinted in mouse placenta.

Category: Imprinted genes

Links: Gene   Record:1350 Last Modified 1/23/2016

Taxon: Human

Chromosome: 06

Location: 6q21

Gene: AIM1

Description: Allele-specific methylation and expression of AIM1 (absent in melanoma 1) has been detected in human placenta (Das R et al, 2013). In two cases the methylated allele was maternal and in four cases the allele-specific expression of the long transcript (not the short transcript) was paternal.
Metsula T et al (2014) reported that four informative placentas showed preferential paternal expression, confirming imprinting of this gene.
Additional suporting evidence was described by Allach El Khattabi L et al (2019).

Category: Imprinted genes

Links: Gene   Record:1378 Last Modified 4/15/2019

Taxon: Human

Chromosome: 06

Location: 6q24

Gene: PLAGL1 (ZAC, LOT1)

Description: PLAGL1 (ZAC, LOT1 pleomorphic adenoma of the salivary gland gene like 1; zinc finger protein which regulates apoptosis and cell cycle arrest ) is expressed exclusively from the paternal allele in a most tissues. Monoallelic expression has been observed in human placenta (Kamiya M et al, 2000; Arima T et al, 2001) in six human fetal tissues (heart, kidney, muscle, spinal cord, adrenal gland and lung) (Kamiya M et al, 2000) and in skin fibroblasts (Mackay DJ et al, 2002). However, biallelic expression has been noted in peripheral blood leukocytes (Kamiya M et al, 2000; (MacKay DJ et al, 2002). Tissue specific imprinting depends on the variable utilisation of the imprinted P1 promoter, or the unimprinted P2 promoter (Valleley EM et al, 2007).
It is a strong candidate gene for transient neonatal diabetes. Five of 6 TNDM cases showed loss of maternal methylation in a differentially methylated region, a putative imprinting control region that overlaps ZAC and HYMAI (chr6:144370610-144371540 NCBI Build 36.1) (Arima T et al, 2001).

Category: Imprinted genes

Links: Gene   OMIM    Record:191 Last Modified 12/20/2016

Taxon: Human

Chromosome: 06

Location: 6q24

Gene: "Transient neonatal diabetes"

Description: Transient neonatal diabetes (TND) is a rare form on diabetes which appears shortly after birth and disappears by 18 months. Several cases of transient neonatal diabetes exhibit paternal uniparental disomy (UPD) of chromosome 6 (Temple IK, et al. 1995). Additionally, paternal UPD has been associated with agenesis of pancreatic beta cells and neonatal diabetes (Abramowicz MJ, et al. 1994). A genotypic study of 30 TND patients showed that 11 patients had paternal UPD of chromosome 6, 11 had a duplication of 6q24 (containing the TND critical region) which was paternal in origin when tested (9/11), one patient had loss of maternal methylation of a CpG island within the TND critical region and 7 had no apparent chromosome abnormalities (Temple IK, et al. 2000).
A case showing hemizygous deletion of unknown parental origin has been reported (Diatloff-Zito et al, 2007).
The TND critical region is within a 3-400 kb region in 6q24, between D6S308 (AFM262XE9) and D6S1010 (CHLC.GATA41E03) and differential methylation has been identified (Gardner RJ, et al. 2000; Cave H, et al. 2000). A study by Arima T, et al. 2001 showed 5 of 6 TND cases showed loss of maternal methylation in a differentially methylated region, a putative imprinting control region which overlaps ZAC and HYMAI . Loss of imprinting of ZAC and HYMAI has been reported in a patient with TND (Mackay G, et al. 2002).

Category: Imprinting disorder

Record:14 Last Modified 1/27/2017

Taxon: Human

Chromosome: 06

Location: 6q24.2

Gene: HYMAI

Description: HYMAI (hydatidiform mole associated and imprinted) is a non-coding RNA transcript that is expressed only from the paternal chromosome. It overlaps exon 1 of the imprinted gene PLAGL1 (ZAC) and shares the same DMR (Arima T et al, 2000; Arima T et al, 2001). Imprinting is also supported by expression studies in monochromosomal hybrids (Inoue J et al, 2001).

Category: Imprinted genes

Links: Gene   OMIM    Record:216 Last Modified 2/19/2016

Taxon: Human

Chromosome: 06

Location: 6q24.2

Gene: PHACTR2

Description: PHACTR2 (phosphatase and actin regulator 2) showed preferential maternal expression in 10 of 14 informative placentas (Daelemans C et al, 2010).

Category: Imprinted genes

Links: Gene  Unigene   Record:1268 Last Modified 1/13/2012

Taxon: Human

Chromosome: 06

Location: 6q25-q27

Gene: IDDM8

Description: IDDM8 showed allele sharing predominantly from one parent (paternal origin effect) in families with Type 1 diabetes (Paterson AD et al, 1999).
McCann JA et al (2004) found significant transmission distortion at a SNP on exon 16 of IGF2R, but this association was limited to maternally inherited alleles.

Category: Parental effect

Record:158 Last Modified 8/2/2005

Taxon: Human

Chromosome: 06

Location: 6q25.2

Gene: PXDC1 (provisional)

Description: PXDC1 (PX domain containing 1), which is less than 100 kb from FAM50B, showed preferential expression from the paternal allele in lymphoblastoid cells lines, but minimal asymmetry in RNA from peripheral blood leukocytes (Mozaffari SV et al, 2018).

Category: Other

Links: Gene   Record:1498 Last Modified 9/18/2018

Taxon: Human

Chromosome: 06

Location: 6q25.3, 160 Mb (GRCh37)

Gene: IGF2R (M6PR) (disputed)

Description: IGF2R (Insulin-like growth factor II receptor; mannose 6-phosphate receptor, cation independent) is maternally expressed in several mammalian species but there are conflicting data from humans.
Monk D et al (2006, supporting Table 1) found monoallelic expression in 3 of 8 informative term placental samples (maternal expression could be confirmed in two). Polymorphic imprinting of IGF2R was previously reported in humans (Polychronakos C, 1993; Xu Y et al 1993).
Allele specific methylation (methylation of the active maternal allele) is maintained in humans (Smrzka OW et al, 1995; Riesewijk AM et al, 1996).
Braidotti G et al (2004) speculate that the strong CpG island in intron 2 of human IGF2R allows the possibility of expression of a human IGF2R antisense (AIR) transcript (and thus IGF2R imprinting) in some situations.
In contrast, in a study of 7 placentas, 46 conceptuses and 7 Wilms tumours, Killian found no evidence of imprinting (Killian JK et al 2001) in accord with previous studies (Kalscheuer VM et al 1993).
IGF2R was biallelically expressed in 14 of 14 human embryonic stem cell lines (Kim KP et al, 2007).
Buckberry S et al (2013) found no evidence for imprinting of IGF2R in 24 first trimester placentas.

McCann JA et al (2004) found significant transmission distortion at a SNP on exon 16 of IGF2R for type 1 diabetes, and this association was limited to maternally inherited alleles.

Category: Other

Links: Gene   Record:13 Last Modified 3/12/2015

Taxon: Human

Chromosome: 06

Location: 6q25.3-q26

Gene: MAS1 (disputed)

Description: MAS1 (a tyrosine kinase protooncogene) was reported to show monoallelic expression (parent-of-origin not determined) in 4 human breast samples (3 malignant, 1 benign) by nested RT-PCR (Miller N et al, 1997), but others have shown no evidence of imprinting in humans or mice (Riesewijk AM et al, 1996; Schweifer N et al, 1997).

Category: Other

Links: Gene   Record:12 Last Modified 7/12/2006

Taxon: Human

Chromosome: 06

Location: 6q26

Gene: SLC22A2 (OCT2)

Description: SLC22A2 (solute carrier family 22 (organic cation transporter), member 2; OCT2) is reported to be polymorphically imprinted. Among 18 term placenta samples, 5 showed monoallelic expression and of these 4 were shown to be maternally expressed (Monk D et al, 2006). SLC22A2 and IGF2R imprinting was concordant within samples: of four samples that were informative for both genes, two showed maternally expression of both genes whereas in the two other samples, both genes were biallelically expressed.
SLC22A2 (solute carrier family 22 (organic cation transporter), member 2) is imprinted in mice (Zwart R et al, 2001).

Category: Imprinted genes

Links: Gene   Record:299 Last Modified 5/25/2015

Taxon: Human

Chromosome: 06

Location: 6q26

Gene: SLC22A3 (OCT3) (provisional)

Description: SLC22A3 (solute carrier family 22 (extraneuronal monoamine transporter), member 3; OCT3) is reported to be imprinted in first trimester placentae (the number of samples is not clear), but not in fetal tissues, nor in term placenta (Monk D et al 2006).
No evidence of imprinted expression was found in a survey of numerous adult tissues (Baran Y et al 2015).

Category: Imprinted genes

Links: Gene   Record:1193 Last Modified 7/7/2017

Taxon: Human

Chromosome: 06

Location: 6q27

Gene: KIF25

Description: Baran Y et al (2015) found evidence of imprinting of KIF25 (kinesin family member 25) in adult brain tissue (using RNA-seq). Biallelic expression of KIF25 was reported in multiple other tissues (subcutaneous adipose, visceral adipose, mammary tissue, left ventricle, lung, skeletal muscle and testis).

Category: Imprinted genes

Links: Gene Record:1491 Last Modified 8/3/2017

Taxon: Human

Chromosome: 06

Location: 90.9 - 97.7 cM

Gene: Type II diabetes susceptibility locus

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type II diabetes (age of onset < 25 years) in Pima Indians, a region on chromosome 6 showed evidence of linkage to maternal alleles (LOD = 3.0) but not paternal (LOD = 0) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:447 Last Modified 31/08/2005

Return to the Search Engine.

Return to return to the front page.


(Format File = Record.html)