title: Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.
abstract: Mutations of SGCE encoding epsilon-sarcoglycan cause myoclonus-dystonia. SGCE is paternally expressed; however, 5-10% of patients show maternal inheritance of the disease. We found Sgce was exclusively paternally expressed in mice by using a novel polymorphism marker. The result was confirmed in Sgce heterozygous knockout mice. This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE. Furthermore, we report a new family of alternatively spliced Sgce mRNA expressed in the brain coding for different C-terminal sequences possessing a PDZ-binding motif. Our results provide a better basis for diagnosis and understanding of the pathogenesis of myoclonus-dystonia.
authors.affiliation: Department of Molecular and Integrative Physiology, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Yokoi
authors.forename: Mai T
authors.initials: MT
authors.lastname: Dang
authors.forename: Shinichi
authors.initials: S
authors.lastname: Mitsui
authors.forename: Yuqing
authors.initials: Y
authors.lastname: Li
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000378:metabolism*; D018390:Gene Targeting; D005819:Genetic Markers; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics; D011110:Polymorphism, Genetic; D023121:RNA, Messenger, Stored / Q000378:metabolism*; D049031:Sarcoglycans / Q000235:genetics / Q000378:metabolism*
chemical_list: D005819:Genetic Markers; D023121:RNA, Messenger, Stored; D049031:Sarcoglycans