Taxon:

Human

Gene:

SGCE

Chromosome:

07

Location:

7q21.3 (94.05 Mb Build 36.1)

Description:

SGCE (sarcoglycan epsilon) shares a promoter CpG island with PEG10. The transcription start sites of these two genes are 115 bp apart (in opposite directions). The promoter CpG island is maternally methylated in peripheral blood leukocytes. In UPD7 cell lines only a weak RT-PCR signal was observed in matUPD7 whereas a strong signal was seen in patUPD7 lines suggesting preferential paternal expression (Grabowski M et al. 2003).
Morcos L et al (2011) claimed to validate paternal expression of SGCE in lymphoblastoid cell lines, but only two families trios were studied and specific data were not presented.
SGCE is involved in dystrophin-associated glycoprotein assembly in striated muscles and is associated with myoclonus dystonia (MD) which shows autosomal dominant inheritance with reduced penetrance upon maternal transmission. Among 6 families with SGCE mutations, 49 of 62 clinically affected individuals inherited the disease paternally, whereas 4 inherited it maternally (9 unknown). Of 18 asymptomatic carriers, 14 inherited the mutation maternally and 3 paternally (1 unknown) (Zimprich A et al. 2001). This inheritance pattern suggests preferential paternal expression of SGCE as reported in mouse Sgce (Piras G et al. 2000).
Two families with unaffected parents and affected offspring were analyzed for inheritance and expression of the SGCE gene. In one family, both offspring were affected and showed expression from paternally inherited mutant alleles only. In the second family the single affected child also had a paternally inherited mutant allele, but showed biallelic expression that was associated with partial loss of methylation at several CpG nucleotides in the promoter region of SGCE (Muller B et al. 2002).
A maternally methylated germline DMR overlaps exon1 of PEG10 and SGCE (chr7:94122795-94124463 NCBI build 36.1) (Ono R, et al. 2003).
A case of myoclonus-dystonia due to maternal uniparental disomy of 7p11.2-7q11.21, including SGCE, was used to demonstrate biallelic methylation and lack of expression in blood, consistent with exclusive paternal expression of SGCE (Guettard E et al, 2008).

Category:

Imprinted genes

Record:

267

Last Modified 7/10/2016

Links:

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