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6 records found


Taxon: Human

Chromosome: 21

Location:

Gene: "UPD"

Description: Cases of maternal UPD of chromosome 21 have been reported in healthy individuals. This suggests no phenotypically important imprinted genes are located on maternal chromosome 21 (Mansuet-Lupo A et al 2009; Rogan PK et al 1999).
One case of maternal UPD of chromosome 21 leading to a recessive disorder has been reported. In this case the UPD lead to Bartsocas-Papas syndrome (BPS), a severe form of popliteal pterygia, characterised by cutaneous webbing across joints, cleft lip and/or palate, syndactyly and genital malformations (Leslie EJ et al 2015).

A case of paternal UPD of chromosome 21 has been identified in a healthy individual (Blouin JL et al 1993).

Category: Disomy (UPD)

Record:57 Last Modified 1/27/2017

Taxon: Human

Chromosome: 21

Location: 21q21

Gene: amyloid beta A4 precursor protein, APP

Description: Hereditary cerebral haemorrhage with amyloidosis-Dutch type has a higher mortality rate when paternally transmitted (Bornebroek M et al, 1997). HCHWA-D is an autosomal dominant disorder caused by a single base change in the amyloid beta A4 precursor protein gene on chromosome 21.

Category: Parental effect

Links: OMIM   Record:133 Last Modified 4/30/2010

Taxon: Human

Chromosome: 21

Location: 21q22

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 38 cM on chromosome 21 (Strauch K et al, 2005).

Category: Parental effect

Links: Record:1030 Last Modified 7/2/2006

Taxon: Human

Chromosome: 21

Location: 21q22.13

Gene: VPS26C (DSCR3)

Description: A CpG island (CpG#59) 8 kb downstream of exon 1 of VPS26C (VPS26 endosomal protein sorting factor C; also known as CDSCR3 (Down syndrome critical region protein 3)) was maternally methylated in a subset of peripheral blood leukocytes and in some placentas. Differential methylation was detected by PCR following DNA digestion with either HpaII or McrBC (methylation sensitive and dependent restriction enzymes respectively) (Yamada Y et al, 2004).

Category: Parental effect

Links: Gene   Record:1270 Last Modified 9/18/2018

Taxon: Human

Chromosome: 21

Location: 21q22.2

Gene: DSCAM

Description: DSCAM (DS cell adhesion molecule) showed monoallelic expression in tissue from 13 placentas, and in all seven informative cases the expressed allele was paternally derived. A DMR in intron 1 showed low methylation in sperm, suggesting maternal-specific methylation of the DMR (Allach El Khattabi L et al, 2019).
There was no evidence for imprinted gene expression in mice.

Category: Imprinted genes

Links: Gene   Record:1497 Last Modified 4/15/2019

Taxon: Human

Chromosome: 21

Location: 21q22.3

Gene: TSPEAR (C21orf29)

Description: A CpG island (CpG#112) 4 kb downstream of exon 1 of TSPEAR (thrombospondin-type laminin G domain and EAR repeats) was maternally methylated in peripheral blood leukocytes and placenta. Differential methylation was detected by PCR following DNA digestion with either HpaII or McrBC (methylation sensitive and dependent restriction enzymes respectively) (Yamada Y et al 2004).

Category: Parental effect

Links: Gene   Record:608 Last Modified 6/19/2011

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