Imprinting Details for Sgce

Imprinting Loci	Chromosome	Chromosomal Region	Expressed parental allele: maternal (M)/ paternal (P)	Name
Sgce	6	prox 6	P	sarcoglycan, epsilon
Gene Synonyms
e-SG
Gene References
Monk D,Wagschal A,Arnaud P,Müller PS,Parker-Katiraee L,Bourc'his D,Scherer SW,Feil R,Stanier P,Moore GE Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. Genome research. 2008();18(8):1270-81 PUBMED
Esapa CT,Waite A,Locke M,Benson MA,Kraus M,McIlhinney RA,Sillitoe RV,Beesley PW,Blake DJ SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Human molecular genetics. 2007();16(3):327-42 PUBMED
Ogawa H,Wu Q,Komiyama J,Obata Y,Kono T Disruption of parental-specific expression of imprinted genes in uniparental fetuses. FEBS letters. 2006();580(22):5377-84 PUBMED
Ono R,Nakamura K,Inoue K,Naruse M,Usami T,Wakisaka-Saito N,Hino T,Suzuki-Migishima R,Ogonuki N,Miki H,Kohda T,Ogura A,Yokoyama M,Kaneko-Ishino T,Ishino F Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality. Nature genetics. 2006();38(1):101-6 PUBMED
Carninci P,Kasukawa T,Katayama S,Gough J,Frith MC,Maeda N,Oyama R,Ravasi T,Lenhard B,Wells C,Kodzius R,Shimokawa K,Bajic VB,Brenner SE,Batalov S,Forrest AR,Zavolan M,Davis MJ,Wilming LG,Aidinis V,Allen JE,Ambesi-Impiombato A,Apweiler R,Aturaliya RN,Bailey TL,Bansal M,Baxter L,Beisel KW,Bersano T,Bono H,Chalk AM,Chiu KP,Choudhary V,Christoffels A,Clutterbuck DR,Crowe ML,Dalla E,Dalrymple BP,de Bono B,Della Gatta G,di Bernardo D,Down T,Engstrom P,Fagiolini M,Faulkner G,Fletcher CF,Fukushima T,Furuno M,Futaki S,Gariboldi M,Georgii-Hemming P,Gingeras TR,Gojobori T,Green RE,Gustincich S,Harbers M,Hayashi Y,Hensch TK,Hirokawa N,Hill D,Huminiecki L,Iacono M,Ikeo K,Iwama A,Ishikawa T,Jakt M,Kanapin A,Katoh M,Kawasawa Y,Kelso J,Kitamura H,Kitano H,Kollias G,Krishnan SP,Kruger A,Kummerfeld SK,Kurochkin IV,Lareau LF,Lazarevic D,Lipovich L,Liu J,Liuni S,McWilliam S,Madan Babu M,Madera M,Marchionni L,Matsuda H,Matsuzawa S,Miki H,Mignone F,Miyake S,Morris K,Mottagui-Tabar S,Mulder N,Nakano N,Nakauchi H,Ng P,Nilsson R,Nishiguchi S,Nishikawa S,Nori F,Ohara O,Okazaki Y,Orlando V,Pang KC,Pavan WJ,Pavesi G,Pesole G,Petrovsky N,Piazza S,Reed J,Reid JF,Ring BZ,Ringwald M,Rost B,Ruan Y,Salzberg SL,Sandelin A,Schneider C,Schönbach C,Sekiguchi K,Semple CA,Seno S,Sessa L,Sheng Y,Shibata Y,Shimada H,Shimada K,Silva D,Sinclair B,Sperling S,Stupka E,Sugiura K,Sultana R,Takenaka Y,Taki K,Tammoja K,Tan SL,Tang S,Taylor MS,Tegner J,Teichmann SA,Ueda HR,van Nimwegen E,Verardo R,Wei CL,Yagi K,Yamanishi H,Zabarovsky E,Zhu S,Zimmer A,Hide W,Bult C,Grimmond SM,Teasdale RD,Liu ET,Brusic V,Quackenbush J,Wahlestedt C,Mattick JS,Hume DA,Kai C,Sasaki D,Tomaru Y,Fukuda S,Kanamori-Katayama M,Suzuki M,Aoki J,Arakawa T,Iida J,Imamura K,Itoh M,Kato T,Kawaji H,Kawagashira N,Kawashima T,Kojima M,Kondo S,Konno H,Nakano K,Ninomiya N,Nishio T,Okada M,Plessy C,Shibata K,Shiraki T,Suzuki S,Tagami M,Waki K,Watahiki A,Okamura-Oho Y,Suzuki H,Kawai J,Hayashizaki Y, , The transcriptional landscape of the mammalian genome. Science (New York, N.Y.). 2005();309(5740):1559-63 PUBMED
Yokoi F,Dang MT,Mitsui S,Li Y Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. FEBS letters. 2005();579(21):4822-8 PUBMED
Imamura M,Mochizuki Y,Engvall E,Takeda S Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. Human molecular genetics. 2005();14(6):775-83 PUBMED
Nishiyama A,Endo T,Takeda S,Imamura M Identification and characterization of epsilon-sarcoglycans in the central nervous system. Brain research. Molecular brain research. 2004();125(1-2):1-12 PUBMED
Xiao J,LeDoux MS Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan. Brain research. Molecular brain research. 2003();119(2):132-43 PUBMED
Show 5 more Gene References below

Uniparental Duplication	ProxBkpt	DisBkpt	Effects
MatDp(prox6) centromere to A3.2	cent	T77H	early embryonic lethality
Region References
Beechey CV A reassessment of imprinting regions and phenotypes on mouse chromosome 6: Nap1l5 locates within the currently defined sub-proximal imprinting region. Cytogenetic and genome research. 2004();107(1-2):108-14 PUBMED
Beechey CV Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenetics and cell genetics. 2000();90(3-4):309-14 PUBMED

Allele Symbol	Allele Name		MGI ID	ENSEMBL	REFSEQ
Sgce<tm1Ygl>	targeted mutation 1, Yuqing Li		MGI:3604206	ENSEMBL	NM_001130188

Ono R,Shiura H,Aburatani H,Kohda T,Kaneko-Ishino T,Ishino F Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6. Genome research. 2003();13(7):1696-705 PUBMED

Okazaki Y,Furuno M,Kasukawa T,Adachi J,Bono H,Kondo S,Nikaido I,Osato N,Saito R,Suzuki H,Yamanaka I,Kiyosawa H,Yagi K,Tomaru Y,Hasegawa Y,Nogami A,Schönbach C,Gojobori T,Baldarelli R,Hill DP,Bult C,Hume DA,Quackenbush J,Schriml LM,Kanapin A,Matsuda H,Batalov S,Beisel KW,Blake JA,Bradt D,Brusic V,Chothia C,Corbani LE,Cousins S,Dalla E,Dragani TA,Fletcher CF,Forrest A,Frazer KS,Gaasterland T,Gariboldi M,Gissi C,Godzik A,Gough J,Grimmond S,Gustincich S,Hirokawa N,Jackson IJ,Jarvis ED,Kanai A,Kawaji H,Kawasawa Y,Kedzierski RM,King BL,Konagaya A,Kurochkin IV,Lee Y,Lenhard B,Lyons PA,Maglott DR,Maltais L,Marchionni L,McKenzie L,Miki H,Nagashima T,Numata K,Okido T,Pavan WJ,Pertea G,Pesole G,Petrovsky N,Pillai R,Pontius JU,Qi D,Ramachandran S,Ravasi T,Reed JC,Reed DJ,Reid J,Ring BZ,Ringwald M,Sandelin A,Schneider C,Semple CA,Setou M,Shimada K,Sultana R,Takenaka Y,Taylor MS,Teasdale RD,Tomita M,Verardo R,Wagner L,Wahlestedt C,Wang Y,Watanabe Y,Wells C,Wilming LG,Wynshaw-Boris A,Yanagisawa M,Yang I,Yang L,Yuan Z,Zavolan M,Zhu Y,Zimmer A,Carninci P,Hayatsu N,Hirozane-Kishikawa T,Konno H,Nakamura M,Sakazume N,Sato K,Shiraki T,Waki K,Kawai J,Aizawa K,Arakawa T,Fukuda S,Hara A,Hashizume W,Imotani K,Ishii Y,Itoh M,Kagawa I,Miyazaki A,Sakai K,Sasaki D,Shibata K,Shinagawa A,Yasunishi A,Yoshino M,Waterston R,Lander ES,Rogers J,Birney E,Hayashizaki Y, , Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002();420(6915):563-73 PUBMED

Piras G,El Kharroubi A,Kozlov S,Escalante-Alcalde D,Hernandez L,Copeland NG,Gilbert DJ,Jenkins NA,Stewart CL Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Molecular and cellular biology. 2000();20(9):3308-15 PUBMED

Straub V,Ettinger AJ,Durbeej M,Venzke DP,Cutshall S,Sanes JR,Campbell KP epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. The Journal of biological chemistry. 1999();274(39):27989-96 PUBMED

McNally EM,Ly CT,Kunkel LM Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS letters. 1998();422(1):27-32 PUBMED

Ettinger AJ,Feng G,Sanes JR epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. The Journal of biological chemistry. 1997();272(51):32534-8 PUBMED