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43 records found


Taxon: Human

Chromosome: 11

Location:

Gene: "UPD"

Description: Mosaic maternal UPD of chromosome 11 has been detected in two children with Silver-Russell syndrome (SRS) (Bullman H et al, 2008; Luk HM et al 2016).

Paternal UPD is one of the causative chromosomal events associated with Beckwith-Wiedemann syndrome (BWS). See individual entries for 11p.
BWS associated UPD is usually partial in that it involves only a portion of 11p (this always includes 11p15.5), and it is always mosaic; that is, affected individuals always show a mixture of normal cells (biparental disomy) and UPD cells (Cooper WN et al, 2007).

Category: Disomy (UPD)

Links: OMIM (BWS)   Record:135 Last Modified 1/20/2017

Taxon: Human

Chromosome: 11

Location: 11p13

Gene: WT1 (AWT1, WT1 alternative)

Description: An alternative transcript of WT1 (Wilms tumour 1), AWT1, is reported to be paternally expressed in kidney, together with the WT1 antisense transcript. Although monoallelic expression was clearly demonstrated, paternal expression was only demonstrated in one normal kidney sample, and was inferred from continued expression in two Wilms tumours with loss of heterozygosity and retention of the paternal allele (Dallosso AR et al, 2004).
WT1 was previously reported to be partially or completely imprinted and maternally expressed in 5 of 9 preterm placentas and in 2 fetal brains (Jinno Y et al, 1994), and in 7 of 19 placental villus samples from gestational age 4 to 21 weeks (Nishiwaki K et al, 1997) but was paternally expressed in fibroblasts and lymphocytes from two of seven individuals (Mitsuya K et al, 1997).
In contrast equal expression of WT1 alleles has been reported for fetal kidney (Little MH et al, 1992). Biallelic expression of WT1 was detected in 6/6 human embryonic cell lines (Kim KP et al, 2007).
Baran Y et al (2015) found no evidence of imprinting in multiple adult tissues.
De novo germ line deletions of WT1 preferentially (7/8) occur during male gametogenesis - this not regarded as an imprinting effect (Huff V et al, 1990).
See also WT1-AS.

Category: Imprinted genes

Links: Gene   Record:35 Last Modified 11/25/2018

Taxon: Human

Chromosome: 11

Location: 11p13

Gene: WT1-AS (AWT1) (provisional)

Description: Monoallelic expression of WT1 antisense transcripts along with differential methylation of the antisense regulatory region suggests that WT1-AS may be imprinted. Paternal expression was documented in one case (Malik K et al, 2000; Dallosso AR et al, 2004).
Monoallelic expression of WT1-AS appeared to be controlled by a DMR in intron 1 referred to as ARR (at +2043 - 2893 bp relative to WT1 exon1; chr11:32,410,770-32,411,620) (Dallosso AR et al, 2004).
Baran Y et al (2015) found no evidence of imprinting in multiple adult tissues.

Category: Imprinted genes

Links: Gene   Record:269 Last Modified 11/25/2018

Taxon: Human

Chromosome: 11

Location: 11p13

Gene: BDNF

Description: Evidence for preferential transmission of the valine (G) allele of BDNF was found in a family-based sample of 341 white UK or Irish ADHD (Attention deficit hyperactivity disorder) probands and their parents (odds ratio, OR=1.6, P1/40.02). A strong paternal effect was detected (paternal transmissions: OR=3.2, P=0.0005; maternal transmissions: OR=1.00; P=1.00) (Kent L et al, 2005).

Category: Parental effect

Links: Gene   Record:1140 Last Modified 10/11/2007

Taxon: Human

Chromosome: 11

Location: 11p13

Gene: CD44

Description: CD44 was reported to show monoallelic expression in 9 human placentas (Diplas AI et al, 2009). Allelic specific expression bias was reported for CD44 in IMR90 human fibroblasts (Maynard ND et al, 2009).
Additional data are needed.

Category: Other

Links: Gene   Record:1230 Last Modified 1/26/2016

Taxon: Human

Chromosome: 11

Location: 11p15

Gene: IMAGe syndrome (CDKN1C)

Description: IMAGe syndrome showed an imprinted mode of inheritance in which only maternal transmission of the mutation resulted in the syndrome (Arboleda VA et al, 2012). All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, and probable gain of function of the protein.

Category: Imprinted genes

Links: OMIM   Record:1318 Last Modified 6/28/2012

Taxon: Human

Chromosome: 11

Location: 11p15

Gene: "Silver Russell Syndrome"

Description: 20-60% of patients with Silver-Russell syndrome show (partial) hypomethylation of the H19 DMR, presumably leading to loss of IGF2 expression during fetal development (Gicquel C et al, 2005; Eggermann T et al, 2006; Schönherr N et al, 2006; Netchine I et al, 2007; Prickett AR et al, 2015).
In one patient a maternally inherited duplication included a region of 0.76-1 Mbp and affected the genes regulated by the ICR2, among them CDKN1C and LIT1 (Schönherr N et al, 2007).
Duplication of maternal 11p15 was detected in two patients with Silver-Russell syndrome. The extra maternally-derived 11p15 material was translocated onto chromosomes 10q and 15p respectively (Eggermann T, 2005).
Mosaic maternal UPD of chromosome 11 has been detected in a child with SRS (Bullman H et al, 2008).

Category: Imprinting disorder

Links: OMIM    Record:1008 Last Modified 4/23/2018

Taxon: Human

Chromosome: 11

Location: 11p15.4

Gene: ZNF215 (provisional evidence)

Description: ZNF215 is a zinc finger gene 3.9 Mb centromeric of OSBPL5 the most centromeric of the imprinted genes in the KCNQ1 imprinting cluster on 11p15.5. It has five alternatively spliced isoforms, two of which were preferentially expressed from the maternal allele in tissues from two fetuses (SSCP analysis of nested RT-PCR products) (Alders M et al, 2000).
Extract from paper: "The maternal allele of ZNF215V1 is preferentially expressed in liver, lung, kidney, and testis but also that, in the brain and heart, these alleles are nearly equally expressed. Interestingly, ZNF215V3 also is partially imprinted in lung, liver, and kidney but is completely imprinted in heart. In brain tissue, however, complete imprinting is seen in fetus 2, whereas, in fetus 1, both alleles are expressed indicating either that, at least in this tissue, individual variation exists or that imprinting may vary in different stages of development"
However, Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.

Category: Imprinted genes

Links: Gene   Record:153 Last Modified 7/15/2012

Taxon: Human

Chromosome: 11

Location: 11p15.4

Gene: AMPD3

Description: AMPD3 (AMP deaminase 3) is imprinted in mouse placenta but was biallelically expressed in a single human term placenta (Schulz R et al, 2006).

Category: Other

Links: Gene   Record:1098 Last Modified 9/10/2007

Taxon: Human

Chromosome: 11

Location: 11p15.4

Gene: NAP1L4

Description: Baran Y et al (2015) found no evidence of imprinting of NAP1L4 (nucleosome assembly protein 1 like 4) in multiple adult tissues (using RNA-seq).

Category: Other

Links: Gene Record:1493 Last Modified 8/3/2017

Taxon: Human

Chromosome: 11

Location: 11p15.4-p15.1

Gene: SMPD1, "Niemann-Pick Disease"

Description: Preferential expression of the mutation-bearing maternal allele of SMPD1 (sphingomyelin phosphodiesterase 1) was identified in three related individuals (Simonaro CM et al, 2006). Allele bias was also observed for an unrelated individual; however inheritance pattern was not examined.

Category: Parental effect

Links: Gene   OMIM NPD Type A   OMIM NPD Type B   Record:1234 Last Modified 6/27/2010

Taxon: Human

Chromosome: 11

Location: 11p15.5

Gene: "Gingival fibromatosis"

Description: Maternally inherited gingival fibromatosis in 2 unrelated Chinese families was mapped to 11p15 with a maximal LOD score of 8.7 at D11S4046 (1.92 MB, 2.79 cM) in family 1 and of 6.02 at D11S1318 (2.28 MB, 4.84 cM) in family 2 (Zhu Y et al, 2006).
Imprinted genes H19 and TSPAN32 are at 1.97 MB and 2.28 MB respectively).

Category: Parental effect

Record:1075 Last Modified 1/25/2007

Taxon: Human

Chromosome: 11

Location: 11p15.5 (0)

Gene: Beckwith-Wiedemann syndrome (BWS)

Description: Imprinted gene(s) in the 11p15 clusters are involved in Beckwith Wiedemann syndrome (BWS). See individual entries.

Category: Imprinting disorder

Links: OMIM    Record:24 Last Modified 1/27/2017

Taxon: Human

Chromosome: 11

Location: 11p15.5 (01)

Gene: H19, miR-675

Description: H19 is maternally expressed in humans and mouse. The gene product is an abundant untranslated RNA. An imprint-control region (ICR) 2-4.4 kb upstream of H19 controls the imprinting of IGF2. The unmethylated maternal allele has binding sites for CTCF that prevents access of the enhancers to IGF2 (Rachmilewitz J, et al 1992; Rainier S et al, 1993; Zhang Y et al, 1992; Frevel M et al, 1999 [for DMR boundaries]).
H19 is host to miR-675, a 23-nucleotide microRNA derived from nucleotides 1014– 1036 of the H19 RNA transcript (Cai X & Cullen BR, 2007).

Category: Imprinted genes

Links: Gene   Record:25 Last Modified 12/5/2007

Taxon: Human

Chromosome: 11

Location: 11p15.5 (02)

Gene: IGF2

Description: IGF2 (Insulin-like growth factor 2, a fetal growth factor) is paternally expressed in nearly all human tissues. Expression is not imprinted in the choroid plexus, leptomeninges, brain, bone marrow, adult human liver and chondrocytes. Its imprinting is under the control of enhancers upstream of the H19 locus (Rainier S, 1993; Ogawa O, 1993; Ohlsson R, 1993). Analysis of imprinting of IGF2 in peripheral blood suggest imprinting maybe polymorphic, with biallelic expression being observed in ~10% of individuals (4 of 38 in japanese sample)(Sakatani T et al 2001).
IGF2 has two secondary (post-fertilisation) DMRs. DMR0 is in intron 2, and shows maternal methylation (Sullivan M et al, 1999). DMR2 overlaps intron 8 and exon 9 and shows maternal methylation (demonstrated at 2 HpaII sites) in human blood (Reik W et al, 1994; Reik W et al, 1995).

Category: Imprinted genes

Record:26 Last Modified 7/7/2017

Taxon: Human

Chromosome: 11

Location: 11p15.5 (02)

Gene: MIR483 (hsa-mir-483)

Description: MIR483 (hsa-mir-483) is located within intron 7 of IGF2 (Fu H et al, 2005). The mature form, miR-483-3p, is overexpressed in Wilms tumours, as well as in 30% of colon, breast and liver cancers (Veronese A et al, 2010). It has been proposed that miR-483-3p may protect cells from apoptosis (Veronese A et al, 2010).
The imprinting status of miR-483-3p is not yet known, but because it is transcribed off the same strand as IGF2 it is likely to be paternally expressed.

Category: Imprinted genes

Links: Gene   Record:1250 Last Modified 6/27/2010

Taxon: Human

Chromosome: 11

Location: 11p15.5 (02a)

Gene: IGF2AS, PEG8

Description: IGF2AS (PEG8) is a paternally expressed antisense transcript from the IGF2 locus. It has 3 exons, starts in intron 4 and ends in intron 2 of IGF2 (Okutsu T et al, 2000). Its promoter overlaps a large CpG island that is unmethylated in human kidney (Sullivan M et al, 1999).

Category: Imprinted genes

Links: Gene   Record:268 Last Modified 12/7/2007

Taxon: Human

Chromosome: 11

Location: 11p15.5 (03)

Gene: INS, insulin

Description: Monoallelic expression of INS was observed in six human yolk sacs and in two the expressed allele could be identified as paternal (Moore GE et al, 2001). Ins2 (the mouse orthologue) is paternally expressed in mouse yolk sac, but not imprinted in human or mouse pancreas (Giddings SJ et al, 1994; Bennett ST et al, 1995). Insulin has been suspected to be imprinted in humans since the susceptibility to Type 1 diabetes may be influenced by the parent-of-origin of insulin alleles, but the mechanism of this effect is unclear (Bennett ST et al, 1996; Bennett ST et al, 1996; Bennett ST et al, 1997; Polychronakos C, et al, 1995; Margaritte- Jeannin P et al, 1995; Huxtable SJ et al, 2000). Paternal transmission of the Class I insulin VNTR allele predisposes to childhood obesity (Le Stunff C et al, 2001). Osada et al, 2007 investigated the genotypes of two polymorphic loci; -23HphI and HUMTH01 in Japanese mothers and their neonates. These polymorphic loci are in linkage disequilibrium with the INS-VNTR class III allele. Osada et al, 2007 found that the paternally transmitted -23HphI allele was exclusively correlated with increased size at birth.

Category: Imprinted genes

Links: OMIM    Unigene   Gene   Record:27 Last Modified 11/1/2015

Taxon: Human

Chromosome: 11

Location: 11p15.5 (03a)

Gene: TH (tyrosine hydroxylase)

Description: TH (tyrosine hydroxylase) has been reported to be imprinted in mouse, but I am unaware of any human data (input is welcome please).

Category: Other

Links: Gene   Record:1100 Last Modified 11/18/2011

Taxon: Human

Chromosome: 11

Location: 11p15.5 (04)

Gene: ASCL2 (HASH2)

Description: There is mixed evidence regarding ASCL2 (Achaete Scute complex like 2, the human homologue of imprinted murine Mash2, a helix-loop-helix transcription factor).
Biallelic expression was detected in early placental tissue by using allele-specific RT-PCR (Westerman BA, 2001) and further studies of 16 placental samples (weeks 12-39 of gestation) all showed biallelic expression suggesting that human ASCL2 escapes imprinting (Miyamoto T et al. 2002).
Previously, lack of expression in hydatidiform moles suggested imprinting of ASCL2 in humans (Alders M et al, 1997).
Overall there is insufficient evidence to conclude that human ASCL2 is imprinted.

Category: Other

Record:28 Last Modified 4/3/2008

Taxon: Human

Chromosome: 11

Location: 11p15.5 (04a)

Gene: TSPAN32 (PHEMX, TSSC6)

Description: Human location of TSPAN32 (PHEMX, TSSC6), that is reported by some to be imprinted in mouse placenta. Human PHEMX has been reported to be not imprinted (Paulsen M et al, 2000; Lee M et al, 1999).

Category: Other

Links: Gene   Record:628 Last Modified 7/18/2006

Taxon: Human

Chromosome: 11

Location: 11p15.5 (05)

Gene: CD81 (TAPA1)

Description: CD81 (TAPA1). Using somatic-cell hybrids no evidence of imprinting was found in human (Gabriel JM et al, 1998).
Several independent reports show relative repression of the paternal allele of Cd81 in the mouse (see mouse 7).

Category: Other

Links: Gene   Record:29 Last Modified 10/4/2006

Taxon: Human

Chromosome: 11

Location: 11p15.5 (05a)

Gene: TSSC4

Description: In mice placentas Tssc4 shows significant bias towards expression of the maternal allele (Paulsen M et al, 2000) but it is thought to be not imprinted in human (Lee MP et al, 1999).

Category: Other

Links: Gene   Record:202 Last Modified 1/11/2004

Taxon: Human

Chromosome: 11

Location: 11p15.5 (06)

Gene: TRPM5 (LTRPC5, MTR1)

Description: TRPM5 (MTR1, LTRPC5, transient receptor potential cation channel subfamily M member 5, MLSN1- and TRPC7-related gene 1) resides between TSSC4 and KvLQT1. Analysis of somatic cell hybrids containing a single human chr. 11 demonstrated expression in three cell lines carrying a paternal chromosome 11, but not in two cell lines containing maternal chromosome 11 (Prawitt D et al, 2000). Mouse Trpm5 is not imprinted (Paulsen M et al, 2000; Enklaar T et al, 2000).

Category: Other

Links: Gene   Record:186 Last Modified 7/14/2006

Taxon: Human

Chromosome: 11

Location: 11p15.5 (07)

Gene: KCNQ1, KvLQT1

Description: KCNQ1, KvLQT1 (potassium channel involved in long QT syndrome) is maternally expressed in humans and in mouse embryos. Its expression is imprinted in several tissues but not in the heart (Lee MP et al, 1997). A paternally-expressed antisense transcript has been reported (see KCNQ1OT1/LIT1).

Category: Imprinted genes

Links:   Detailed Entry Record:30 Last Modified 3/4/2006

Taxon: Human

Chromosome: 11

Location: 11p15.5 (08)

Gene: KCNQ1OT1 (LIT1, KvLQT1-AS, KvDMR1)

Description: KCNQ1OT1 (LIT1) is a paternally expressed antisense transcript originating in intron 10 of KCNQ1. It is associated with a maternally methylated CpG island (KvDMR1)(Beatty L et al, 2006 [for DMR boundaries]). KCNQ1OT1 is biallelically expressed in some cases of BWS (Lee MP et al, 1999; Smilinich NJ et al, 1999; Mitsuya K et al, 1999).
In mice and humans KvDMR1 is involved in the coordinate control of the adjacent imprinted genes PHLDA2, Slc22a1l, Cdkn1c, Kcnq1, Tssc4, and Ascl2 (Fitzpatrick GV et al, 2002; Horike S et al, 2000).
Mechanisms by which KCNQ1OT1 represses the other imprinted genes in the domain are explored by Lewis A et al (2004), Umlauf D et al (2004), Mancini-Dinardo D et al (2006), Green K et al (2007) and Shin JY et al (2007).
KCNQ1OT1 RNA accumulates along regions of chromosome 11p suggesting that the physical presence of the RNA may contribute to imprinting of neighbouring genes (Murakami K et al, 2007).
Loss of methylation of KCNQ1OT1, and BWS, in a family was associated with maternal homozygosity for a frameshift mutation in exon 6 of NLRP2 (Meyer E et al, 2009).

Category: Imprinted genes

Links: Gene   Record:182 Last Modified 4/27/2019

Taxon: Human

Chromosome: 11

Location: 11p15.5 (08a)

Gene: KCNQ1DN (BWRT)

Description: KCNQ1DN (KCNQ1 downstream neighbour) is located between CDKN1C and KCNQ1, is imprinted and maternally expressed (Xin Z et al, 2000). It encodes a putative protein (BWRT) of 68 amino acids.
A mouse homologue for BWRT is assumed not to exist (Engemann S et al, 2000).

Category: Imprinted genes

Links: Gene   Record:223 Last Modified 8/7/2004

Taxon: Human

Chromosome: 11

Location: 11p15.5 (09)

Gene: CDKN1C (p57KIP2)

Description: CDKN1C (a cyclin-dependent kinase inhibitor, p57KIP2) is maternally expressed in humans and mouse. It is completely imprinted in mouse (Hatada I et al, 1995) but only partially in humans (Matsuoka S et al, 1996; Chung WY et al, 1996; Taniguchi T et al, 1997). Silencing of this transcript in persons with Beckwith-Wiedemann syndrome appears to be associated with loss of maternal methylation at the differentially methylated region KvDMR1 (Diaz-Meyer N et al, 2003).

Category: Imprinted genes

Links: Gene   Record:31 Last Modified 18/07/2005

Taxon: Human

Chromosome: 11

Location: 11p15.5 (10)

Gene: SLC22A18AS (SLC22A1LS, BWR1B, BWSCR1B, ORCTL2S)

Description: SLC22A18AS (solute carrier family 22 (organic cation transporter), member 18 antisense; SLC22A1LS; BWR1B; BWSCR1B; ORCTL2S) showed monoallelic expression in multiple tissues from 2 spontaneously aborted fetuses. The parental origin of the expressed allele could be determined in one fetus. It was maternally expressed (Bajaj V et al, 2004).
Dao et al (1998) stated that SLC22A18LS (under the name 2G3-8) was under study, but that it may show allelic expression bias in some tissues.
Biallelic expression was observed of six informative reduction mastectomy samples, although three of these showed possible allelic imbalance (Gallagher E et al, 2006).
Morcos L et al (2011) found no evidence of allelic expression bias in lymphoblast cell lines.
Baran Y et al (2015) found no evidence of imprinting of SLC22A18AS (using RNA-seq) in multiple adult tissues (subcutaneous adipose, brain, transverse colon, liver and whole blood).
On balance there is insufficient evidence to include SLC22A18AS in the list of imprinted genes.

Category: Other

Links: Gene   OMIM    Record:501 Last Modified 8/3/2017

Taxon: Human

Chromosome: 11

Location: 11p15.5 (10a)

Gene: SLC22A18 (BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5)-[status questioned]

Description: SLC22A18 (solute carrier family 22 (organic cation transporter), member 18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5) is relatively repressed on the paternal allele in some tissues (Dao D et al, 1998; Cooper PR et al, 1998; Schwienbacher C et al, 1998; Lee MP et al, 1998).
Analysis of peripheral blood samples revealed biallelic expression, but with a significant bias towards the maternal allele (Sakatani T et al 2001). Monoallelic expression was detected in only 1 of 4 benign reduction mastectomy tissues and in 2 of 11 malignant breast tissues (Gallagher E et al, 2006).
Biallelic expression was detected in 7/7 human embryonic stem cell lines (Kim KP et al, 2007).
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines for the gene SLC22A18.

Category: Imprinted genes

Links: Gene   Record:33 Last Modified 7/15/2012

Taxon: Human

Chromosome: 11

Location: 11p15.5 (11)

Gene: PHLDA2 (TSSC3, IPL, BWR1C)

Description: PHLDA2 (pleckstrin homology-like domain, family A, member 2, TSSC3, IPL) shows maternal expression with relative repression of the paternal allele. It is expressed in placenta and most fetal tissues (Qian N et al, 1997; Lee MP et al, 1998).
However, Morcos L et al, (2011) found no evidence of allelic expression bias in fibroblast cell lines.

Category: Imprinted genes

Links: GENE   Record:34 Last Modified 5/13/2019

Taxon: Human

Chromosome: 11

Location: 11p15.5 (12)

Gene: OSBPL5 (OBPH1)

Description: OSBPL5 (Oxysterol binding protein-like 5, OBPH1) shows predominant maternal expression in the placenta but biallelic expression in fetal and newborn organs. These results suggest that the 11p15 imprinted region extends to OSBPL5. Identical results were achieved in mouse samples (Higashimoto K, et al. 2002)
Okae H et al, (2012) found no evidence of imprinting of OSBPL5 in the placenta and trophoblast stem cells (TS)in mouse studies. This is concordant with Proudhon and Bourc'his, (2010) caution that maternal contamination of placental tissues may cause apparent imprinted maternal expression.
Morcos L et al, (2011) found no evidence of allelic expression bias in fibroblast cell lines.

Category: Other

Links: Gene   Record:428 Last Modified 7/15/2012

Taxon: Human

Chromosome: 11

Location: 11q13

Gene: MS4A2, FCERI, FCERIB (Fc epsilon RI-beta),

Description: MS4A2 (Membrane-spanning 4-domains, subfamily A, member 2). In allergic asthmatics the Leu181 allele was always maternally inherited (10/10 families) (Shirakawa T et al. 1994), while significant differences in linkage between maternal and paternal alleles has been observed (Daniels SE et al. 1996). In Japanese atopic siblings significantly increased sharing of maternal alleles was found (Mao XQ et al. 1997). In a panel of 60 families, significant sharing of maternal alleles was seen for atopic dermatitis and allele 2 of RsaI intron 2 and allele 1 of RsaI exon 7 (P = 0.0036) FCERIB gene polymorphisms (Cox HE et al. 1998). The most recent study examined association of allergen-induced skin-prick tests using specific IgE titres as a covariate. This showed mixed results with several SNPs showing significant (P < 0.01) maternal association with IgE titres (but not skin-prick/IgE-titre combination) in a panel of atopic asthma patients but not in a general population sample. A region of high CpG dinucleotide content also showed significant maternal association (P = 0.00001) to IgE titres in the atopic asthma panel. No mechanism has been identified to explain this maternal parent-of-origin effect (Traherne JA et al. 2003).

Category: Parental effect

Links: LocusLink   OMIM    Unigene Record:36 Last Modified 4/30/2010

Taxon: Human

Chromosome: 11

Location: 11q13.3

Gene: ANO1 (provisional data)

Description: For Ano1 (Anoctamin 1) Okae H et al (2012) provided evidence for polymorphic imprinting in four out of eight placenta, confirming maternal expression in one.

Baran Y et al (2015) reported that the expression of ANO1 is constent with imprinting (Table S6) but do not provide details.

Category: Imprinted genes

Links: Gene   Record:1297 Last Modified 11/25/2018

Taxon: Human

Chromosome: 11

Location: 11q13.4

Gene: DHCR7

Description: DHCR7 (7-dehydrocholesterol reductase) is reported to be imprinted in mouse, but was biallelically expressed in two human placentas (Schulz R et al, 2006).

Category: Other

Links: Gene   Record:1102 Last Modified 9/10/2007

Taxon: Human

Chromosome: 11

Location: 11q13.4, 74.7 Mb

Gene: Birth weight

Description: A genome-wide linkage analysis assessing parent of origin effects in the inheritance of birth weight (334 sibling pairs, 92 families) found significant linkage at 11q13.4 (73.7 Mb) with birth weight being predominantly linked to paternally inherited alleles (paternal LOD = 4.1, maternal LOD = 0.0) (Lindsay RS, et al. 2002).

Category: Parental effect

Links: Record:437 Last Modified 31/08/2005

Taxon: Human

Chromosome: 11

Location: 11q22

Gene: ZC3H12C

Description: ZC3H12C was monoallelically expressed in 8 placentas and the expressed allele could be defined as paternal in 5 cases ( Barbaux S et al, 2012). Although it was reported to be imprinted, insufficient data is available to define it as imprinted.

Category: Other

Links: Gene   Record:1353 Last Modified 12/29/2012

Taxon: Human

Chromosome: 11

Location: 11q22.3-q23

Gene: SDHD

Description: SDHD (succinate-ubiquinone oxidoreductase subunit D, a mitochondrial complex II gene) showed paternal expression in four glomus tumours (nonchromaffin paragangliomas), in the absence of apparent loss of heterozygosity (Badenhop RF et al, 2001), but biallelic expression in lymphocytes, 2 adult brain, 3 fetal brains and 1 fetal kidney (Badenhop RF et al, 2001; Baysal BE et al, 2000).
Mutations of SDHD cause hereditary paraganglioma type 1 (glomus tumours) which are always inherited from carrier fathers (Baysal BE et al, 1997; Mariman EC et al, 1995; van der Mey AG et al, 1989; Milunsky J et al, 1997).
Hensen EF et al, 2004 showed deletion of the entire maternal chromosome 11 in all nineteen cases of paraganglioma, and suggest that the apparent imprinting of SDHD is attributable to the need to delete both a maternally expressed tumour suppressor gene elsewhere on chromosome 11 (eg, 11p15), and the wildtype copy of SDHD. Yeap PM et al (2011) confirmed that tumour formation requires the loss of both the wild-type SDHD allele and maternal 11p15, leading to the predominant but not exclusive pattern of disease inheritance after paternal SDHD transmission.
Margetts CD et al, 2005 found loss of the maternal allele in VHL-associated (n = 3) and sporadic phaeochromocytomas (n = 7) without SDHD mutations, suggesting that 11p loss reflects the involvement of other imprinted 11p15.5 genes and providing evidence against imprinting of SDHD itself.
Baysal et al, (2011) claim evidence for imprinting at a non-coding gene, termed UPGL (Untranslated in ParaGanglioma Locus) situated 206 kb telomeric to the SDHD locus. They report allele specific methylation in the adrenal cortex of four out of five fetuses. In one sample the more methylated allele was identified as maternal. Allelic expression imbalance for UPGL was detected in one of seven fetuses; the other six showed biallelic expression.
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast cell lines.
Baran Y et al (2015) found no evidence of imprinting of SDHD in multiple adult tissues (using RNA-seq).

Category: Other

Links: OMIM    Record:37 Last Modified 8/3/2017

Taxon: Human

Chromosome: 11

Location: 11q23

Gene: "Gilles de la Tourette syndrome"

Description: Gilles de la Tourette syndrome showed parent-of-origin phenotype differences (Lichter DG et al, 1995), and maternally transmitted offspring showed a significantly earlier age at onset (Eapen V et al, 1997). These differences have not been confirmed by others (Caron C et al, 1997).

Category: Parental effect

Links: OMIM    Record:70 Last Modified 4/30/2010

Taxon: Human

Chromosome: 11

Location: 11q23.3

Gene: Jacobsen syndrome deletions

Description: In Jacobsen syndrome (11q deletion disorder), of six patients with distal deletions, five were of paternal origin. In contrast five of eight more proximal deletions were of maternal origin (Penny LA et al, 1995).

Category: Parental effect

Links: OMIM    Record:391 Last Modified 4/30/2010

Taxon: Human

Chromosome: 11

Location: 11q25

Gene: Differentially methylated region

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

Category: DMR or ICR

Record:309 Last Modified 3/12/2015

Taxon: Human

Chromosome: 11

Location: 11q25

Gene: NTM

Description: NTM was monoallelically expressed in 3 placentas and the expressed allele could be defined as maternal in only one cases. In one case, the expression was found to be biallelic ( Barbaux S et al, 2012). Although it was reported to be imprinted, the data is not sufficient to confirm imprinting status of the gene.

Category: Other

Links: Gene   Record:1354 Last Modified 12/29/2012

Taxon: Human

Chromosome: 11

Location: 127.5 - 136.6 cM

Gene: Body mass index (BMI), obesity

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of body mass index (kg/m2) in Pima Indians, a region on chromosome 11 showed evidence of linkage to paternal alleles (LOD = 1.6) but not maternal (LOD = 0.5) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:452 Last Modified 3/12/2015

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