Imprinted Gene Catalogue Banner

12 records found


Taxon: Human

Chromosome: 20

Location:

Gene: "UPD"

Description: Mulchandani S et al (2016) report eight cases of maternal UPD of chromosome 20 with normal karyotypes. All individuals had intra-uterine growth restriction (IUGR) and failure to thrive. Six of the cases required chronic gastric tube feedings. The authors postulate an imprinting disorder due to maternal UPD of chromosome 20.

Pseudohypoparathyroidism type Ib (PHP-Ib), characterised by resistance to parathyroid hormone (PTH), has been identified in patients with paternal UPD of chromosome 20. PHP-Ib is caused by imprinting defects of GNAS, the gene that codes for the alpha subunit of guanine nucleotide binding protein (G(s)α). G(s)α is an important signaling protein for the action of PTH (Bastepe M et al 2011; FernŠndez-Rebollo E et al 2010).
Geelen J et al (2013) report a case of severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID) due to paternal UPD of chromosome 20. This revealed homozygosity for a 5bp deletion in the ADA gene.

Category: Disomy (UPD)

Record:259 Last Modified 1/27/2017

Taxon: Human

Chromosome: 20

Location:

Gene: CST1

Description: Baran Y et al (2015) found evidence of imprinting of CST1 (cystatin SN) in adult tibial nerve tissue (using RNA-seq). Allelic expression of CST1 in aorta and not sun exposed skin tissues was also consistent with imprinting of this gene in these tissues. Biallelic expression of CST1 was reported in subcutaneous adipose, prostate and sun exposed skin tissues.

Category: Imprinted genes

Links: Gene Record:1492 Last Modified 8/3/2017

Taxon: Human

Chromosome: 20

Location: 20p12.1

Gene: SPTLC3

Description: SPTLC3 (serine palmitoyltransferase, long chain base subunit 3) was reported as showing possible imprinting (Metsula T et al, 2014). Our judgement is that there is insufficient evidence to include SPTLC3 as an imprinted gene at this time.

Category: Other

Links: Gene   Record:1383 Last Modified 3/4/2015

Taxon: Human

Chromosome: 20

Location: 20q11.2

Gene: BLCAP (BC10)

Description: BLCAP (Bladder cancer associated protein, BC10) is imprinted in the human and mouse brain (Schulz R et al, 2009). Human BLCAP has at least four transcripts. BLCAP_V1 transcripts were predominantly from the maternal allele whereas BLCAP_V2a transcript was exclusively from the paternal allele.
Previously BLCAP was reported to be not imprinted in fetal tissues (Evans HK et al, 2001).

Category: Imprinted genes

Links: Gene   Record:1201 Last Modified 7/12/2011

Taxon: Human

Chromosome: 20

Location: 20q11.2-q12

Gene: NNAT (Neuronatin)

Description: NNAT (Neuronatin) is transcribed specifically from the paternal allele in fetal brain (the only tissue from which expression could be detected). A 1.8-kb CpG island in its promoter region exhibits differential maternal methylation in all tissues examined (Evans HK et al, 2001). NNAT is also the first identified eutherian-specific imprinted gene(Evans HK et al, 2005).
NNAT, a three exon gene, is located within the first intron of BLCAP which is imprinted and preferentially maternally expressed in human and mouse brain (Schulz R et al, 2009). Previously BLCAP was reported to be not imprinted in fetal tissues (Evans HK et al, 2001). NNAT is transcribed antisense with respect to BLCAP.

Category: Imprinted genes

Links: Gene   Record:193 Last Modified 2/4/2013

Taxon: Human

Chromosome: 20

Location: 20q11.21

Gene: PSIMCT-1 (MCTS2, MCTS1 pseudogene)

Description: PSIMCT-1 (MCTS1 pseudogene; referred to as MCTS2 (malignant T cell amplified sequence 2) by Wood et al.) was exclusively expressed from the paternal allele in fetal brain, heart and tongue in one informative fetus, and monoallelically expressed in two additional fetuses (same tissues) (Wood AJ et al, 2007). Mouse Mcts2 is also imprinted and paternally expressed.
PSIMCT-1 is reported to be a pseudogene derived from the X chromosome gene MCTS1/Mcts1 (Nandi S et al, 2006). Despite 15 nucleotide differences the 181 aa open reading frame is conserved with 95% identity to MCTS1. Thus Wood et al. believe it to be a functional retrogene.
PSIMCT-1 retrotransposed into intron 4 of HM13/H13 of mouse and human. It is absent in the genome of cow and dog.

Category: Imprinted genes

Links: Gene   Record:1076 Last Modified 5/21/2008

Taxon: Human

Chromosome: 20

Location: 20q11.21

Gene: HM13 (H13)

Description: HM13 (histocompatibility (minor) 13, H13) contains the imprinted retrogene PSIMCT-1 (MCTS2). In mouse H13 is imprinted and maternally expressed (Wood AJ et al, 2007).
The imprinting status of human HM13 is not yet known.

Category: Other

Links: Gene   Record:1079 Last Modified 6/11/2008

Taxon: Human

Chromosome: 20

Location: 20q12

Gene: Differentially methylated gene

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

Category: DMR or ICR

Record:315 Last Modified 3/12/2015

Taxon: Human

Chromosome: 20

Location: 20q13

Gene: Pseudohypoparathyroidism Ib (PHPIB)

Description: PHPIB results from resistance to parathyroid hormone (PTH) in the renal proximal tubules leading to hypocalcaemia and hyperphosphataemia and increased PTH in the serum. PHPIB is caused by defects at the GNAS locus (Tafaj O & JŁppner H 2016). GNAS is located at 20q13 and contains 13 exons. GNAS codes for the alpha-subunit of stimulatory guanine-binding nucleotide (Gsα) and 5 different mRNAs. More than 60% of PHPIB cases are caused by defects at GNAS DMRs. 10-25% of cases are due to paternal UPD of chromosome 20 and in rare cases the condition is due to deletions at the 20q13 locus (Soellner L et al 2017).

Category: Other

Links: OMIM Record:1432 Last Modified 1/30/2017

Taxon: Human

Chromosome: 20

Location: 20q13.12

Gene: L3MBTL

Description: L3MBTL (l(3)mbt-like, a polycomb group protein) is monoallelically expressed. Two associated CpG islands showed monoallelic methylation. Exclusive paternal expression was observed in 5 persons from 2 families (Li J et al, 2004).

Category: Imprinted genes

Links: Gene   Record:496 Last Modified 17/06/2004

Taxon: Human

Chromosome: 20

Location: 20q13.2

Gene: GNAS complex locus (GNAS1, Gs alpha, NESP55, XLalpha s, GNAS1-AS(SANG), miR-296, miR-298)

Description: The GNAS1 gene contains three imprinted protein-coding transcripts, one non-coding transcript and one imprinted antisense transcript.
1. Gs-alpha (a small GTPases) is maternally expressed the pituitary gland (Hayward BE et al, 2001), thyroid and gonads (Mantovani G et al. 2002; Liu J et al, 2003; Germain-Lee EL et al, 2002), but is biallelically expressed in most other tissues (Hayward BE et al, Aug 1998). It is likely to be imprinted in the renal proximal tubules (Liu J et al, 2000). In clones derived from bone marrow stroma, non-imprinted allelic imbalance was noted in the Gs alpha transcript (Michienzi S et al, 2007).
2. XLalpha s (the extra-large variant of the G protein alpha-subunit) is paternally expressed (Hayward BE et al, Aug 1998). Multiple transcripts and protein isoforms are derived from the XL (XXL) promoter (Abramowitz J et al, 2004).
3. NESP55 (Neuroendocrine secretory protein 55, a chromogranin-like protein) is maternally expressed in multiple fetal tissues (Hayward BE et al, Dec 1998).
4. The exon 1A (exon A/B) transcript is probably not translated and is paternally expressed (Liu J et al, 2000).
5. GNAS1-AS(SANG) is a paternally expressed antisense transcript that spans the upstream NESP55 region (Hayward BE et al, 2000).
This transcript hosts two microRNAs. Robson, JE et al, (2012) provided evidence for exclusive paternal expression of miR-296-5p and miR-298 in two lymphoblastoid human cell lines.

The inheritance pattern of several diseases suggested imprinting of the GNAS1 gene . Albright hereditary osteodystrophy displays various physical abnormalities as well as end organ resistance to various hormones including parathyroid (pseudo-hypoparathyroidism type 1a) when inherited maternally (60 offspring from 33/36 maternal transmitting parents). However when this disease is transmitted paternally, offspring (6) suffer from the physical features of AHO but lack hormone resistance (pseudopseudo-hypoparathyroidism) (Davies SJ et al, 1993). Recent evidence that the Gs-alpha transcript is predominantly maternally expressed in the thyroid gland and gonads is consistent with this inheritance pattern (Mantovani G et al. 2002). Progressive osseous heteroplasia is attributable to paternally inherited mutations of GNAS1 (Shore EM et al, 2002). Abnormal imprinting (loss of methylation) of a region upstream of the Gs alpha promoter in exon 1A (exon A/B) has been identified in 13 of 13 patients with pseudohypoparathyroidism type IB (renal resistance to parathyroid hormone lacking other AHO associated symptoms) (Liu J et al, 2000; Bastepe M et al, 2001). Pseudohypoparathyroidism type IB shows an imprinted inheritance pattern, ie, the disease is always maternally transmitted (Juppner H et al, 1998).
For review summaries see Lalande M, 2001 and Weinstein LS et al, 2002.

Category: Imprinted genes

Links: Gene  OMIM   Detailed Entry Record:56 Last Modified 8/3/2017

Taxon: Human

Chromosome: 20

Location: 20q13.2

Gene: SGK2

Description: For SGK2 (serum/glucocorticoid regulated kinase 2) Morcos L et al, (2011) showed allelic expression bias in lymphoblast cell lines. Exclusive paternal expression was then shown in nine informative parent-offspring trios.

Category: Imprinted genes

Links: Gene   Record:1317 Last Modified 6/12/2012

Return to the Search Engine.

Return to return to the front page.


(Format File = Record.html)