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8 records found


Taxon: Human

Chromosome: 15

Location: 15q11-q13 (08)

Gene: SNHG14 (SNURF, SNRPN, SNORD107 (HBII-436), SNORD64 (HBII-13), SNORD108(HBII-437), SNORD109A (HBII438A), SNORD116@ (PWCR1; HBII-85), SNORD115@ (HBII-52), SNORD109B (HBII438B), UBE3A-AS (incl. IPW,PAR-SN,PAR1,PAR5))

Description: The SNHG14 small nucleolar RNA host gene 14 transcript extends from SNURF to UBE3A (antisense) and spans 460 kb and 148 exons (Nicholls RD et al, 2001; Runte M et al, 2001). It is exclusively paternally expressed and contains:
An imprinting centre (IC) at its 5' end;
SNURF (SNRPN Upstream Reading Frame) that is encoded by exons 1-3 (Gray TA et al, 1999);
SNRPN (small nuclear ribonucleoprotein polypeptide N) that is encoded by exons 4-10 (Glenn CC et al, 1993; Sutcliffe JS et al, 1994);
Small nucleolar RNAs (snoRNAs) SNORD107 (HBII-436), SNORD64 (HBII-13), SNORD108(HBII-437), SNORD109A (HBII438A), SNORD116@ (PWCR1; 24 copies of HBII-85), SNORD115@ (47 copies of HBII-52), and SNORD109B (HBII438B) which are encoded within the introns (Cavaille J et al, 2000; Runte M et al, 2001; de los Santos T et al, 2000);
IPW, a long noncoding RNA in the critical region of the PWS locus (it is also a regulator of the DLK1-DIO3 imprinted region) (Wevrick R et al, 1994; Stelzer Y et al, 2014);
And finally UBE3A-AS, the paternally expressed UBE3A antisense transcript (Rougeulle C et al, 1998) that is thought to control the imprinting of UBE3A (Martins-Taylor K et al, 2014).
The extended transcript includes PAR-SN (Ning Y et al, 1996), PAR1 and PAR5 (Sutcliffe JS et al, 1994).

The transcript extends beyond SNORD116 in neurons but not in non-neuronal cells (Lee S et al, 2003; Runte M et al, 2004 ).
The germline imprint control region (DMR) overlaps exon 1 of SNRPN (Zeschnigk M et al, 1997).

Using mouse A9 hybrids containing a single paternal or maternal chromosome, biased paternal expression was found for the following ESTs within this extended transcript: H20970, R37082, R42946, H59928, N21972, H17549, H75355 (Meguro M et al, 2001).

Baran Y et al (2015) found evidence of imprinting of SNURF (using RNA-seq) in multiple adult tissues (subcutaneous adipose, adrenal gland, aorta, coronary artery, tibial artery, brain, mammary tissue, transverse colon, oesophagus muscularis, transformed fibroblasts, atrial appendage, left ventricle, EBV-transformed lymphocytes, lung, skeletal muscle, tibial nerve, ovary, pituitary, not sun exposed skin, sun exposed skin, stomach, thyroid, uterus and T cells). Allelic expression of SNURF in multiple other tissues was also consistent with imprinting (pancreas, prostate, visceral adipose, vagina, fallopian tube, whole blood, liver and oesophagus mucosa). Biallelic expression of SNURF was observed in testis tissue.

Category: Imprinted genes

Links: Gene   Record:47 Last Modified 9/18/2018

Taxon: Human

Chromosome: 15

Location: 15q11-q13 (10)

Gene: UBE3A

Description: UBE3A (ubiquitin protein ligase E3A) is maternally expressed in human and mouse brain, but is biallelically expressed in other tissues. This gene is mutated in some cases of Angelman syndrome, deleted in others (60-70%), and affected by paternal UPD in others (Rougeulle C et al, 1997; Vu TH et al, 1997). UBE3A has a downstream transcript which shows predominant maternal expression (Rougeulle C et al, 1998).
Morcos L et al (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.
UBE3A antisense transcript (UBE3A-ATS) is thought to control the imprinting of UBE3A (Martins-Taylor K et al, 2014).

Category: Imprinted genes

Links: Gene   Record:52 Last Modified 2/10/2017

Taxon: Mouse

Chromosome: 07

Location: 28.65 cM, central

Gene: Ube3a

Description: Ube3a (ubiquitin conjugating enzyme E3A) is maternally expressed in human and mouse brain, but is biallelic in other tissues (Albrecht U et al, 1997). Syntenic with human 15q11-q13.

Category: Imprinted genes

Record:84 Last Modified 4/28/2010

Taxon: Mouse

Chromosome: 07

Location: 29.0 cM - 28.0 cM

Gene: Snrpn, Snurf, IPW, MBII-436, MBII-13, Pwcr1 (MBII-85), MBII-52, Ube3a-AS

Description: Large alternatively spliced transcripts (Large paternal Non-Coding RNA, LNCAT) extend from (U) exons upstream of Snurf/Snrpn to the Ube3a antisense region (Landers M et al, 2004; Le Meur E et al, 2005).

These transcripts are paternally expressed and include Snurf, Snrpn, MBII-436 (Ding F et al, 2005), MBII-13, Pwcr1 (MBII-85), MBII-52, and other components such as the Ipw exons.
Snrpn (small nuclear ribonucleoprotein-associated polypeptide N) and Snurf are two proteins encoded by the extended Snurf-Snrpn transcript. They are paternally expressed (Leff SE et al, 1992; Gray TA et al, 1999).
MBII-13 is a class C/D box small nucleolar RNA (snoRNA) (Cavaille J et al, 2000).
Pwrcr1 (MBII-85) contains multiple copies of the class C/D box small nucleolar RNAs (snoRNAs) MBII-85 (equivalent to human SNORD116@ cluster). It is paternally expressed in brain (Cavaille J et al, 2000; de los Santos T et al, 2000). Deletion of murine MBII-85 snoRNA caused postnatal growth retardation, with about 15% postnatal lethality indicating a functional role for a role for the MBII-85 snoRNA (Skryabin BV et al 2007).
MBII-52 are class C/D box small nucleolar RNAs (snoRNAs) encoded by multiple copies of a tandem repeat between adjacent to IPW and it is paternally expressed in brain (Cavaille J et al, 2000).
Ube3a-AS (Ube3a-ATS) transcripts silence the paternal copy of Ube3a in the brain (Chamberlain SJ and Brannan CI, 2001; Landers M et al, 2004).
Ipw (Imprinted in Prader-Willi) is paternally expressed but probably untranslated (Wevrick R et al, 1997). It is not clear whether IPW has any specific function or whether it is merely part of the extended transcript.
General reference: (Nicholls RD and Knepper JL, 2001).
Bisulfite sequencing revealed that reactivation of maternal alleles of Snrpn in specific tissues was accompanied by partial demethylation at their potential imprinting control regions (Shi W et al, 2005).

Category: Imprinted genes

Links: Gene   Record:627 Last Modified 5/26/2011

Taxon: Marsupial

Chromosome:

Location:

Gene: UBE3A

Description: UBE3A is biallelically expressed (not imprinted) in tammar wallaby brain (Rapkins RW et al, 2006).

Category: Other

Record:1123 Last Modified 7/24/2007

Taxon: Monotreme

Chromosome:

Location:

Gene: UBE3A

Description: UBE3A was biallelically expressed (not imprinted) in one platypus brain (Rapkins RW et al, 2006).

Category: Other

Record:1124 Last Modified 7/24/2007

Taxon: Reptile

Chromosome: Unknown

Location:

Gene: UBE3A

Description: UBE3A was biallelically expressed in the embryonic component of 6 southern grass skink (Pseudomoia entrecasteauxii) placentae (heterozygosity of SNPs were detected by high throughput mRNA sequencing and confirmed by pyrosequencing).
UBE3A and 16 other genes (imprinted in mammals) were biallelically expressed, providing no evidence to support evolution of imprinting in this matrotrophic viviparous skink (Griffith OW et al 2016).

Category: Other

Record:1463 Last Modified 2/9/2017

Taxon: Insect

Chromosome: 03

Location: 3L 68B1-68B1

Gene: Ube3a (Dub3a)

Description: Dube3a (the drosophila homologue of UBE3A) was expressed from both parental alleles in Drosophilia (Hope KA et al, 2016).

Category: Other

Links: Gene   Record:1488 Last Modified 6/6/2017

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