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13 records found


Taxon: Human

Chromosome: 01

Location:

Gene: "UPD"

Description: More than 20 cases with UPD of chromosome 1 have been reported: seven maternal and 13 paternal. Of 20 reviewed cases, 13 were identified through homozygosity for an autosomal recessive disorder. There is no evidence to suggest a phenotype attributable to imprinted genes.
See Turner CL et al. (2007) for a discussion and summary of cases.

Category: Disomy (UPD)

Record:5 Last Modified 2/2/2017

Taxon: Human

Chromosome: 01

Location:

Gene: Alcoholism susceptibility

Description: There was evidence of linkage of maternal alleles on chromosome 1 (and 8) with alcoholism (Paterson AD et al, 1999).

Category: Parental effect

Record:155 Last Modified 20/10/2004

Taxon: Human

Chromosome: 01

Location: 181.4 - 192.4 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 1 showed evidence of linkage to paternal alleles (LOD = 2.6) but not maternal (LOD = 0.7) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:446 Last Modified 31/08/2005

Taxon: Human

Chromosome: 01

Location: 1p21.1

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, significant evidence for linkage, with imprinting, to alcoholism was detected at D1S1631 (1p21.1) (Shete S and Yu R, 2005).

Category: Parental effect

Links: Record:1026 Last Modified 7/2/2006

Taxon: Human

Chromosome: 01

Location: 1p31

Gene: DIRAS3 (ARHI, NOEY2)

Description: DIRAS3 (DIRAS family, GTP-binding RAS-like 3, ARHI, NOEY2) is a ras-related gene which acts as a growth regulator in ovarian and breast cancers (Yuan J, et al 2003).
It is reported to be paternally expressed and maternally 'imprinted' (Yu Y et al 1999).
Baran Y et al (2015) reported imprinted (or "consistent with imprinted) expression of DIRAS3 in 17 of 27 adult human tissues.
Monoallelic expression was detected in 4/4 informative samples which included two cancer cell lines, one ovarian surface epithelium primary culture and one normal breast epithelium sample. In the last sample only, the expressed allele could be identified and was paternal. In three families, using an intron 1 (AT)n polymorphism, only the maternal DNA allele could be amplified in all six offspring after genomic DNA was digested by the methylation-sensitive restriction enzyme BstUI. In another family, only the maternal allele at position -750 bp could be amplified after BstUI digestion.
Methylation sensitive Southern blotting showed evidence of partial methylation in the promoter CpG island in normal tissues (Luo RZ et al 2001).
It has three CpG islands.

Category: Imprinted genes

Links: Gene   Record:161 Last Modified 11/25/2018

Taxon: Human

Chromosome: 01

Location: 1p32, 51.6 Mb

Gene: EPS15

Description: EPS15 (epidermal growth factor receptor pathway substrate 15) was reported to show monoallelic expression in 8 human placentas (Diplas AI et al, 2009). The parent of origin could not be determined. Previously, it was reported to show allelic specific binding of RNA polymerase II (Maynard ND et al, 2009).
Additional data are needed.

Category: Other

Links: Gene   Record:1229 Last Modified 7/15/2010

Taxon: Human

Chromosome: 01

Location: 1p34.1

Gene: RNU5D-1 (provisional)

Description: RNU5D-1 (RNA, U5D small nuclear 1) was monoallelically and exclusively paternally expressed in (?) one human induced pluripotent stem cell line and in one human embryonic stem cell line. It was not expressed in two parthenogenetic human induced pluripotent stem cell lines (Stelzer Y et al, 2011).
Baran Y et al (2015) found no evidence of imprinting of RNU5D-1 (using RNA-seq) in adult subcutaneous adipose, tibial artery, transformed fibroblasts, sun exposed skin, whole blood and EBV-transformed lymphocytes.
Although the data appear internally consistent, the number of independent samples analysed is too small to ascribe imprinting with confidence. There are no known neighbouring imprinted genes. The genomic region encompassing RNU5D-1 is highly conserved across mammals.

Category: Imprinted genes

Links: Gene   Record:1393 Last Modified 8/3/2017

Taxon: Human

Chromosome: 01

Location: 1p36

Gene: L211

Description: Clone L211 is a differentially methylated sequence in human 1p36 near p73 (Landers M, Am J Hum Genet. 1998;63(4 suppl):A22).

Category: DMR or ICR

Record:151 Last Modified 3/12/2015

Taxon: Human

Chromosome: 01

Location: 1p36.3

Gene: Neuroblastoma tumour suppressor locus

Description: Two distinct regions of somatic 1p36 loss of heterozygosity have been found in neuroblastomas (NBs) (Caron H et al, 1995). Deletions at 1p36 in NBs without MYCN amplification occur at 1p36.3 and evidence from 24 NBs suggests the maternal allele is preferentially deleted (21 maternal : 3 paternal) (Caron H et al, 2001 ). However there is conflicting evidence from 29 NBs that showed no parent of origin bias in deletions of this region (13 maternal : 16 paternal) (Hogarty MD et al., 2002 ). Larger deletions at 1p36.1 (extending to telomere) are observed in tumours with MYCN amplification, but no parent of origin effect has been observed (Hogarty MD et al, 2001).

Category: Other

Record:228 Last Modified 19/08/2003

Taxon: Human

Chromosome: 01

Location: 1p36.33

Gene: TP73 (conflicting evidence)

Description: TP73 (tumour protein p73) was reported to be maternally expressed in blood and some neuroblastoma cell lines (Kaghad M et al, 1997). Maternal expression has been confirmed in fetal pancreas and thymus and in adult normal kidney and oesophagus (Mai M et al, 1998; Cai YC et al, 2000). Monoallelic expression was confirmed in peripheral blood (Martinez-Delgado et al, 2002) and in 3 of 4 fetal brains, but biallelic expression was observed in all other fetal tissues (Hu JF et al, 2000). No imprinting of TP73 was found in 27 of 29 lung specimens and in one case with allelic imbalance the preferentially expressed allele was paternally derived (Nomoto S et al, 1998). Variable imprinting was found in human placenta (Diplas AI et al, 2009).
Biallelic expression of TP73 was found in 8 or 8 human embryonic stem cell lines (Kim KP et al, 2007).
TP73 is located in the region showing preferential maternal loss of heterozygosity in neuroblastomas without MYCN amplification (Caron H et al, 1995), but some have argued against a role in neuroblastoma (Ejeskar K et al, 1999). TP73 is a candidate tumour suppressor gene involved in lymphoma (Martinez-Delgado et al, 2002).
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.
Baran Y et al (2015) found no biallelic expression and no evidence of imprinting in an extensive survey of multiple tissues.

Category: Imprinted genes

Links: Gene   Record:4 Last Modified 11/25/2018

Taxon: Human

Chromosome: 01

Location: 1q25.2

Gene: PAPPA2

Description: PAPPA2 (pappalysin 2) was reported as showing possible imprinting (Metsula T et al, 2014). Our judgement is that there is insufficient evidence to include PAPPA2 as an imprinted gene at this time.

Category: Other

Links: Gene   Record:1381 Last Modified 3/3/2015

Taxon: Human

Chromosome: 01

Location: 1q41

Gene: "Bipolar affective disorder"

Description: Preferential sharing of maternal 1q41 alleles was reported in a genome-wide scan for linkage to bipolar affective disorder (Maximum likelihood score = 1.43) (McInnis M.G, et al 2003).

Category: Parental effect

Links: Record:419 Last Modified 16/11/2003

Taxon: Human

Chromosome: 01

Location: 1q43

Gene: LGALS8

Description: LGALS8 (lectin, galactoside-binding, soluble, 8) was reported as showing possible imprinting (Metsula T et al, 2014). Our judgement is that there is insufficient evidence to include LGALS8 as an imprinted gene at this time.

Category: Other

Links: Gene   Record:1382 Last Modified 3/4/2015

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