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8 records found


Taxon: Human

Chromosome: 12

Location:

Gene: UPD

Description: A child with Type 3 (homozygous) von Willebrand disease had maternal uniparental isodisomy for chromosome 12. No other abnormal phenotypic features were reported (Boisseau P et al 2011).
A 2-year-old female proband that was diagnosed with hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) was found to be caused by maternal UPD of chromosome 12. Two mutated copies of the VDR gene were inherited (Tamura M et al 2015).

Paternal UPD 12 was detected in a child with sulfite oxidase deficiency (Cho SY et al 2013).

Category: Disomy (UPD)

Record:1290 Last Modified 1/20/2017

Taxon: Human

Chromosome: 12

Location: 12q

Gene: “Type II diabetes susceptibility locus”

Description: Analysis of paternal transmission to non-obese diabetics showed linkage to a region on 12q with a peak LOD score of 1.43 at the marker D12S157 with no evidence for linkage with maternal transmission (Reynisdottir I, et al. 2003).

Category: Parental effect

Record:431 Last Modified 14/11/2003

Taxon: Human

Chromosome: 12

Location: 12q

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, a maternal effect (increased maternal transmission) on linkage to alcoholism on chromosome 12q has been detected; at 156-164 cM (Bautista JF et al, 2005); at 154-162 cM (Liu X-Q et al, 2005) and at 156-172 cM (Strauch K et al, 2005).

Category: Parental effect

Links: Record:1022 Last Modified 7/2/2006

Taxon: Human

Chromosome: 12

Location: 12q13.11, 49 Mb

Gene: SLC38A4 (NAT3, ATA3)

Description: This is the location of the human homologue of mouse gene Slc38a4, Ata3 (solute carrier family 38, member 4) which is paternally expressed (Mizuno Y et al, 2002; Smith RJ et al, 2003).
Baran Y et al (2015) found no evidence of imprinting in multiple adult tissues.

Category: Other

Record:319 Last Modified 11/25/2018

Taxon: Human

Chromosome: 12

Location: 12q14.3

Gene: WIF1

Description: WIF1 (WNT inhibitory factor 1) showed monoallelic methylation in villi from 12 first trimester human placentas. In three the methylated allele could be identified as maternal. Monoallelic transcription was reported to be from the paternal allele, but data from only one case are presented (Guilleret I et al, 2009).

Category: Imprinted genes

Links: Gene   Record:1228 Last Modified 2/13/2012

Taxon: Human

Chromosome: 12

Location: 12q21.33, 90.1 Mb (Build 36.1)

Gene: DCN

Description: DCN (decorin) is biallelically expressed in human first trimester fetal and placenta, in term placenta and in immunoselected trophoblast cells (Monk D et al, 2006).
Mouse Dcn (decorin) had been reported to be maternally expressed in the placenta (Mizuno Y et al, 2002), but subsequent studies have attributed this observation to high expression of DCN in the maternal decidua.

Category: Other

Links: Gene   Record:321 Last Modified 5/25/2015

Taxon: Human

Chromosome: 12

Location: 12q24

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 maternal effect was observed at 12q24, with a single point LOD score of 2.85 and a multipoint score of 4.01 for body-mass-index and 3.69 for waist circumference (Dong C et al, 2005).

Category: Parental effect

Links: Record:1010 Last Modified 6/18/2007

Taxon: Human

Chromosome: 12

Location: 95.03 cM

Gene: Alzheimer disease

Description: A study from a sample of 148 sibships with late onset AD found maternal linkage to a region on chromosome 12 with a maximum Z score of 3.34 (LOD = 2.22) at D12S1064 (Bassett et al. 2002).

Category: Parental effect

Links: Record:485 Last Modified 8/1/2004

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