Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2. Facioscapulohumeral dystrophy (FSHD) is characterized by ch...

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Published in	Nature genetics Vol. 44; no. 12; pp. 1370 - 1374
Main Authors	Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Format	Journal Article
Language	English
Published	New York Nature Publishing Group US 01.12.2012 Nature Publishing Group
Subjects	631/208/176 631/208/2489/144 692/699/1670/1669 Adult Aged Agriculture Allelomorphism Animal Genetics and Genomics Biological and medical sciences Biomedicine Cancer Research Chromosomal Proteins, Non-Histone - genetics Chromosomes Chromosomes, Human, Pair 18 - genetics CpG Islands - genetics Development Biology Diseases of striated muscles. Neuromuscular diseases DNA Methylation - genetics Dystrophy Epigenesis, Genetic Facioscapulohumeral muscular dystrophy Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Health aspects Heredity - genetics Homeodomain Proteins - genetics Human Genetics Humans letter Life Sciences Male Medical sciences Middle Aged Muscular Dystrophy, Facioscapulohumeral - genetics Mutation Neurology Physiological aspects Proteins France United States Netherlands Nervous system diseases Neuromuscular diseases Allele Inheritance(genetics) Mutation Facioscapulohumeral Muscular dystrophy Genetic disease
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Abstract	Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2. Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction–independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction–independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation.
AbstractList	Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by a contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here we show that mutations in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1 ) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in contraction-independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation. Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction-independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation. Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction-independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation. [PUBLICATION ABSTRACT] Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction-independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation.Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction-independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation. Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2. Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction–independent FSHD2 are unclear. Here, we show that mutations in SMCHD1 (encoding structural maintenance of chromosomes flexible hinge domain containing 1) on chromosome 18 reduce SMCHD1 protein levels and segregate with genome-wide D4Z4 CpG hypomethylation in human kindreds. FSHD2 occurs in individuals who inherited both the SMCHD1 mutation and a normal-sized D4Z4 array on a chromosome 4 haplotype permissive for DUX4 expression. Reducing SMCHD1 levels in skeletal muscle results in D4Z4 contraction–independent DUX4 expression. Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation.
Audience	Academic
Author	van der Maarel, Silvère M de Visser, Marianne Balog, Judit Padberg, George W Miller, Daniel G den Dunnen, Johan T Bakker, Bert Lemmers, Richard J L F van der Vliet, Patrick J Donlin-Smith, Colleen M Petek, Lisa M Amell, Amanda M Almomani, Rowida Klooster, Rinse Tawil, Rabi van Engelen, Baziel G M Tapscott, Stephen J Straasheijm, Kirsten R de Greef, Jessica C Filippova, Galina N Bamshad, Michael J Krom, Yvonne D Desnuelle, Claude Aartsma-Rus, Annemieke M Santen, Gijs W E Sun, Yu Block, Gregory J Helmer, Quinta Sacconi, Sabrina Frants, Rune R
AuthorAffiliation	1 Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands 6 Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands 7 Department of Neurology, Academic Medical Center, Amsterdam, Netherlands 3 Department of Pediatrics, University of Washington, Seattle, Washington, USA. Seattle Children’s Hospital, Seattle, WA, USA 5 Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands 4 Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands 2 Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA 8 Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France 9 Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
AuthorAffiliation_xml	– name: 1 Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands – name: 3 Department of Pediatrics, University of Washington, Seattle, Washington, USA. Seattle Children’s Hospital, Seattle, WA, USA – name: 2 Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA – name: 4 Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands – name: 8 Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France – name: 9 Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA – name: 6 Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands – name: 5 Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands – name: 7 Department of Neurology, Academic Medical Center, Amsterdam, Netherlands
Author_xml	– sequence: 1 givenname: Richard J L F surname: Lemmers fullname: Lemmers, Richard J L F organization: Department of Human Genetics, Leiden University Medical Center – sequence: 2 givenname: Rabi surname: Tawil fullname: Tawil, Rabi organization: Department of Neurology, Neuromuscular Disease Unit, University of Rochester Medical Center – sequence: 3 givenname: Lisa M surname: Petek fullname: Petek, Lisa M organization: Department of Pediatrics, University of Washington – sequence: 4 givenname: Judit surname: Balog fullname: Balog, Judit organization: Department of Human Genetics, Leiden University Medical Center – sequence: 5 givenname: Gregory J surname: Block fullname: Block, Gregory J organization: Department of Pediatrics, University of Washington – sequence: 6 givenname: Gijs W E surname: Santen fullname: Santen, Gijs W E organization: Department of Clinical Genetics, Leiden University Medical Center – sequence: 7 givenname: Amanda M surname: Amell fullname: Amell, Amanda M organization: Department of Pediatrics, University of Washington – sequence: 8 givenname: Patrick J surname: van der Vliet fullname: van der Vliet, Patrick J organization: Department of Human Genetics, Leiden University Medical Center – sequence: 9 givenname: Rowida surname: Almomani fullname: Almomani, Rowida organization: Department of Clinical Genetics, Leiden University Medical Center – sequence: 10 givenname: Kirsten R surname: Straasheijm fullname: Straasheijm, Kirsten R organization: Department of Human Genetics, Leiden University Medical Center – sequence: 11 givenname: Yvonne D surname: Krom fullname: Krom, Yvonne D organization: Department of Human Genetics, Leiden University Medical Center – sequence: 12 givenname: Rinse surname: Klooster fullname: Klooster, Rinse organization: Department of Human Genetics, Leiden University Medical Center – sequence: 13 givenname: Yu surname: Sun fullname: Sun, Yu organization: Department of Human Genetics, Leiden University Medical Center – sequence: 14 givenname: Johan T surname: den Dunnen fullname: den Dunnen, Johan T organization: Department of Human Genetics, Leiden University Medical Center, Department of Clinical Genetics, Leiden University Medical Center – sequence: 15 givenname: Quinta surname: Helmer fullname: Helmer, Quinta organization: Department of Medical Statistics and Bioinformatics, Leiden University Medical Center – sequence: 16 givenname: Colleen M surname: Donlin-Smith fullname: Donlin-Smith, Colleen M organization: Department of Neurology, Neuromuscular Disease Unit, University of Rochester Medical Center – sequence: 17 givenname: George W surname: Padberg fullname: Padberg, George W organization: Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre – sequence: 18 givenname: Baziel G M surname: van Engelen fullname: van Engelen, Baziel G M organization: Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre – sequence: 19 givenname: Jessica C surname: de Greef fullname: de Greef, Jessica C organization: Department of Human Genetics, Leiden University Medical Center, Present addresses: Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA, and Howard Hughes Medical Institute, Iowa City, Iowa, USA – sequence: 20 givenname: Annemieke M surname: Aartsma-Rus fullname: Aartsma-Rus, Annemieke M organization: Department of Human Genetics, Leiden University Medical Center – sequence: 21 givenname: Rune R surname: Frants fullname: Frants, Rune R organization: Department of Human Genetics, Leiden University Medical Center – sequence: 22 givenname: Marianne surname: de Visser fullname: de Visser, Marianne organization: Department of Neurology, Academic Medical Center – sequence: 23 givenname: Claude surname: Desnuelle fullname: Desnuelle, Claude organization: Centre de Référence des Maladies Neuromusculaires, Nice University Hospital, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 7277, Nice University Hospital – sequence: 24 givenname: Sabrina surname: Sacconi fullname: Sacconi, Sabrina organization: Centre de Référence des Maladies Neuromusculaires, Nice University Hospital, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 7277, Nice University Hospital – sequence: 25 givenname: Galina N surname: Filippova fullname: Filippova, Galina N organization: Division of Human Biology, Fred Hutchinson Cancer Research Center – sequence: 26 givenname: Bert surname: Bakker fullname: Bakker, Bert organization: Department of Clinical Genetics, Leiden University Medical Center – sequence: 27 givenname: Michael J surname: Bamshad fullname: Bamshad, Michael J organization: Department of Pediatrics, University of Washington, Department of Genome Sciences, University of Washington – sequence: 28 givenname: Stephen J surname: Tapscott fullname: Tapscott, Stephen J email: stapscot@fhcrc.org 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Keywords	Nervous system diseases Neuromuscular diseases Allele Inheritance(genetics) Mutation Facioscapulohumeral Muscular dystrophy Genetic disease
Language	English
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Snippet	Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype... Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the...
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SubjectTerms	631/208/176 631/208/2489/144 692/699/1670/1669 Adult Aged Agriculture Allelomorphism Animal Genetics and Genomics Biological and medical sciences Biomedicine Cancer Research Chromosomal Proteins, Non-Histone - genetics Chromosomes Chromosomes, Human, Pair 18 - genetics CpG Islands - genetics Development Biology Diseases of striated muscles. Neuromuscular diseases DNA Methylation - genetics Dystrophy Epigenesis, Genetic Facioscapulohumeral muscular dystrophy Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Health aspects Heredity - genetics Homeodomain Proteins - genetics Human Genetics Humans letter Life Sciences Male Medical sciences Middle Aged Muscular Dystrophy, Facioscapulohumeral - genetics Mutation Neurology Physiological aspects Proteins
Title	Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
URI	https://link.springer.com/article/10.1038/ng.2454 https://www.ncbi.nlm.nih.gov/pubmed/23143600 https://www.proquest.com/docview/1269081794 https://www.proquest.com/docview/1221135205 https://www.proquest.com/docview/1434018652 https://hal.science/hal-00770764 https://pubmed.ncbi.nlm.nih.gov/PMC3671095
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