Taxon:

Human

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))

Chromosome:

15

Location:

15q11-q13 (08)

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

Record:

47

Last Modified 9/18/2018

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