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16 records found


Taxon: Human

Chromosome: 02

Location:

Gene: "UPD"

Description: Several cases of maternal UPD have been reported. Two phenotypically normal patients with maternal UPD (isodisomy of 2p and heterodisomy of 2q in one case and two isochromosomes in the other) appear to exclude the presence of developmentally important imprinted genes on chromosome 2 (Heide E et al, 2000, Bernasconi F et al, 1996). Other reports of maternal UPD include patients with congenital abnormalities (Shaffer LG et al, 1997), congenital hypothyroidism (Bakker et al, 2001), Primary hyperoxaluria type I (Chevalier-Porst F et al, 2005), Infantile-onset ascending spastic paralysis (Herzfeld T et al, 2009). A case of maternal UPD revealed mutations in two separate genes in a 3-year-old Chinese boy with obesity and developmental delay (Yu T et al, 2016).

Several cases of paternal UPD have been reported. These include cases with Donnai-Barrow syndrome (Kantarci S et al, 2008) , Crigler-Najjar type I syndrome (Petit FM et al, 2005), harlequin icthyosis (Castiglia D et al, 2009), 5alpha-reductase 2 deficiency (Chavez B et al, 2000), and retinal dystrophy (Thomson DA et al, 2002), 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (Baskin B et al, 2010).

A phenotypically normal female with complete paternal UPD2 has been reported (Zhang X et al, 2019). The absence of clinical features, other than those of the unmasked recessive disorders, suggests that chromosome 2 does not contain developmentally important imprinted genes.

Category: Disomy (UPD)

Record:7 Last Modified 6/9/2019

Taxon: Human

Chromosome: 02

Location:

Gene: Alcoholism susceptibility

Description: There was evidence of linkage of paternal alleles on chromosome 2 with alcoholism (Paterson AD et al, 1999).

Category: Parental effect

Record:157 Last Modified 4/8/2003

Taxon: Human

Chromosome: 02

Location: 2p12

Gene: LRRTM1 (provisional data)

Description: LRRTM1 (leucine rich repeat transmembrane neuronal 1) was reported to be imprinted with suppression of the maternal allele. LRRTM1 expression was detected in three A9 hybrid cell lines containing paternal chromosome 2 but not in three lines containing maternal chromosome 2. Monoallelic paternal expression was found in 4 of 4 unrelated EBV-transformed lymphoblastoid cell lines, and in 3 of 18 post-mortem brains, whereas 15/18 brains showed biallelic expression, suggesting either polymorphic imprinting or sampling differences (Francks C et al, 2007).
A significant association of a haplotype upstream of LRRTM1 was associated with human handedness in a set of dyslexic siblings, when the haplotype was inherited paternally (P=0.00002). The same haplotype is overtransmitted paternally to individuals with schizophrenia/schizoaffective disorder in a study of 1002 affected families (P=0.0014) (Francks C et al, 2007).
In mice, expression of Lrrtm1 was detected in cerebral cortex, cerebellum and brain stem, but it was biallelic (Francks C et al, 2007).
Given that 80% of human brains did not show imprinting, the reliance on data from cultured cells, and the lack of imprinting in mice, the imprinting status of LRRTM1 should be regarded as provisional. Independent validation would be helpful.

Category: Imprinted genes

Links: Gene   Record:1142 Last Modified 1/24/2016

Taxon: Human

Chromosome: 02

Location: 2p12-q11

Gene: "relative hand skill"

Description: Linkage analysis of "relative hand skill" in a sample of 191 reading-disabled sibling pairs found paternal linkage to 2p12-q11 (P = 3.7 x 10-6) (Francks C et al. 2003). Linkage to schizophrenia under the same paternal model was also observed at this region in a seperate dataset (see schizophrenia entry).

Category: Parental effect

Links: Record:467 Last Modified 9/27/2007

Taxon: Human

Chromosome: 02

Location: 2p12-q11

Gene: Schizophrenia

Description: Linkage analysis of schizophrenia in a sample of 241 sibling pairs found paternal linkage to 2p12-q11 (P = 1.6 x 10-6) (Francks C et al. 2003). Linkage to "relative hand skill" under the same paternal model was also observed at this region in a seperate dataset (see relative hand skill entry).

Category: Parental effect

Links: Record:468 Last Modified 9/27/2007

Taxon: Human

Chromosome: 02

Location: 2p15

Gene: U2AF1L1 (U2AF1-RS1, U2AFBPL, Zrsr1)

Description: There is no human orthologue of mouse Zrsr1 (U2af1-rs1), an imprinted retrogene probably originating from Zrsr2 (U2af1-rs2) (Zhang Z et al, 2006).

Category: Other

Links: Gene   Record:10 Last Modified 5/31/2007

Taxon: Human

Chromosome: 02

Location: 2p15

Gene: COMMD1 (Murr1)

Description: Unlike mouse Commd1, human COMMD1 is not imprinted, nor does it contain a homolog of the imprinted gene Zrsr1 (U2af1-rs1) within in the first intron (Zhang Z et al, 2006).

Category: Other

Links: Gene   Record:997 Last Modified 9/10/2007

Taxon: Human

Chromosome: 02

Location: 2p21

Gene: THADA

Description: THADA (THADA, armadillo repeat containing) showed excess transmission of the maternal risk allele (T) at rs7578597 to diabetic offspring (Prasad RB et al, 2016).
THADA was one of 1102 genes showing allelic imbalance in pancreatic islet cells (Fadista J et al, 2014).

Category: Parental effect

Links: Gene   Record:1409 Last Modified 5/16/2016

Taxon: Human

Chromosome: 02

Location: 2p21-p24

Gene: "Bipolar affective disorder"

Description: A putative paternally imprinted susceptibility locus for bipolar affective disorder was identified on 2p12-p24 (Cichon S et al, 2001).

Category: Parental effect

Links: Record:383 Last Modified 4/27/2010

Taxon: Human

Chromosome: 02

Location: 2p24

Gene: MYCN

Description: In neuroblastoma the paternal allele is preferentially amplified (Cheng JM et al, 1993).

Category: Other

Record:6 Last Modified 5/11/2011

Taxon: Human

Chromosome: 02

Location: 2q14.3-2q21.2

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 136-147 cM of chromosome 2 (Strauch K et al, 2005).

Category: Parental effect

Links: Record:1027 Last Modified 7/2/2006

Taxon: Human

Chromosome: 02

Location: 2q31

Gene: Obesity, BMI

Description: A genome-wide linkage analysis for obesity (BMI and percentage of fat mass) in Caucasians showed significant maternal linkage (LOD = 3.34) for 2q31 compared to paternal linkage (LOD = 0.61; Guo YF et al, 2006).

Category: Parental effect

Record:1236 Last Modified 4/30/2010

Taxon: Human

Chromosome: 02

Location: 2q31-q32

Gene: "Bipolar affective disorder"

Description: A putative paternally imprinted susceptibility locus for bipolar affective disorder was identified on 2q31-q32 (Cichon S et al, 2001).

Category: Parental effect

Links: Record:385 Last Modified 4/27/2010

Taxon: Human

Chromosome: 02

Location: 2q33.3

Gene: ZDBF2

Description: RT-PCR studies using human lymphocytes and the SNP analysis in the human placenta revealed that the human ZDBF2 (zinc finger, DBF-type containing 2) is paternally expressed in lymphocytes but biallelically expressed in the placenta. The placenta-specific escape from imprinting is similar to that observed in the imprinted mouse Zdbf2 gene (Kobayashi, H. et al, 2009).
Morcos L et al (2011) showed strongly biased paternal expression of ZDBF2 in human lymphoblast cell lines from nine informative parent-offspring trios.
Baran Y et al (2015) found evidence of imprinting of ZDBF2 (using RNA-seq) in multiple adult tissues (subcutaneous adipose, visceral adipose, adrenal gland, aorta, tibial artery, brain, mammary tissue, oesophagus muscularis, transformed fibroblasts, atrial appendage, left ventricle, EBV-transformed lymphocytes, lung, skeletal muscle, tibial nerve, ovary, prostate, pituitary, stomach, thyroid). No evidence of imprinting was seen in pancreas and testis tissues.

Category: Imprinted genes

Links: Gene  Unigene   Record:1271 Last Modified 8/3/2017

Taxon: Human

Chromosome: 02

Location: 2q33.3

Gene: GPR1 (provisional data)

Description: GPR1 was reported to show imprinted paternal expression in three samples of cord blood leukocytes but biallelic expression in the placenta (Hiura H et al. 2010). In response the presence of duplicate panels in Figures 2, 4, 6 and S3 the editors of NAR have issued an "Expression of concern" (Expression of concern 2014) and revised figures have been published.
A paternally methylated DMR is located between GPR1 and ZDBF2 (Hiura H et al. 2010).

Category: Imprinted genes

Links: Gene   Record:1376 Last Modified 7/22/2014

Taxon: Human

Chromosome: 02

Location: 2q33.3

Gene: GPR1-AS

Description: GPR1-AS (GPR1 antisense RNA) is exclusively and strongly expressed in the placenta and adult testis. In four heterozygous human placental tissues only the paternal allele was detected (Kobayashi H et al, 2013).
In four of four informative placentas the GPR1-AS promoter was hypomethylated (≤25%) on the active paternal allele and hypermethylated (≥75%) on the maternal allele. In contrast, the promoter was biallelically methylated in blood lymphocytes (Kobayashi H et al, 2013).
GPR1-AS is homologous to mouse Zdbf2linc.

Category: Imprinted genes

Links: Gene   Record:1384 Last Modified 2/19/2016

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