Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy
10.1126/science.270.5237.819
Crossref journal-article
American Association for the Advancement of Science (AAAS)
Science (221)
Abstract

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human γ-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect γ-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.

Bibliography

Noguchi, S., McNally, E. M., Othmane, K. B., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bönnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Hamida, M. B., Nonaka, I., Vance, J. M., Kunkel, L. M., & Ozawa, E. (1995). Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy. Science, 270(5237), 819–822.

Authors 18
  1. Satoru Noguchi (first)
  2. Elizabeth M. McNally (additional)
  3. Kamel Ben Othmane (additional)
  4. Yasuko Hagiwara (additional)
  5. Yuji Mizuno (additional)
  6. Mikiharu Yoshida (additional)
  7. Hideko Yamamoto (additional)
  8. Carsten G. Bönnemann (additional)
  9. Emanuela Gussoni (additional)
  10. Peter H. Denton (additional)
  11. Theodoros Kyriakides (additional)
  12. Lefkos Middleton (additional)
  13. Faycal Hentati (additional)
  14. Mongi Ben Hamida (additional)
  15. Ikuya Nonaka (additional)
  16. Jeffery M. Vance (additional)
  17. Louis M. Kunkel (additional)
  18. Eijiro Ozawa (additional)
References 35 Referenced 375
  1. AZIBI K, LINKAGE ANALYSIS OF 19 FAMILIES WITH AUTOSOMAL RECESSIVE (DUCHENNE-LIKE) MUSCULAR-DYSTROPHY FROM ALGERIA, CYTOGENETICS AND CELL GENETICS 58, 1907 (1991). / CYTOGENETICS AND CELL GENETICS / LINKAGE ANALYSIS OF 19 FAMILIES WITH AUTOSOMAL RECESSIVE (DUCHENNE-LIKE) MUSCULAR-DYSTROPHY FROM ALGERIA by AZIBI K (1991)
  2. AZIBI K, SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12, HUMAN MOLECULAR GENETICS 2, 1423 (1993). (10.1093/hmg/2.9.1423) / HUMAN MOLECULAR GENETICS / SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12 by AZIBI K (1993)
  3. BENHAMIDA M, MUSCLE NERVE 6, 469 (1983). (10.1002/mus.880060702) / MUSCLE NERVE by BENHAMIDA M (1983)
  4. BENOTHMANE K, EVIDENCE FOR LINKAGE DISEQUILIBRIUM IN CHROMOSOME 13-LINKED DUCHENNE-LIKE MUSCULAR-DYSTROPHY (LGMD2C), AMERICAN JOURNAL OF HUMAN GENETICS 57, 732 (1995). / AMERICAN JOURNAL OF HUMAN GENETICS / EVIDENCE FOR LINKAGE DISEQUILIBRIUM IN CHROMOSOME 13-LINKED DUCHENNE-LIKE MUSCULAR-DYSTROPHY (LGMD2C) by BENOTHMANE K (1995)
  5. BENOTHMANE K, NAT GENET 2, 316 (1992). / NAT GENET by BENOTHMANE K (1992)
  6. BENOTHMANE K unpublished data.
  7. BONNEMANN C.G. IN PRESS NATURE GENE .
  8. BUENO MRP, AMJ HUM GENET 55, A199 (1994). / AMJ HUM GENET by BUENO MRP (1994)
  9. BURGHES AHM, A CDNA CLONE FROM THE DUCHENNE BECKER MUSCULAR-DYSTROPHY GENE, NATURE 328, 434 (1987). (10.1038/328434a0) / NATURE / A CDNA CLONE FROM THE DUCHENNE BECKER MUSCULAR-DYSTROPHY GENE by BURGHES AHM (1987)
  10. BUSHBY KMD, THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6–8-JANUARY-1995, NEUROMUSCULAR DISORDERS 5, 337 (1995). (10.1016/0960-8966(95)00005-8) / NEUROMUSCULAR DISORDERS / THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6–8-JANUARY-1995 by BUSHBY KMD (1995)
  11. ELKERCH F, LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA, JOURNAL OF MEDICAL GENETICS 31, 342 (1994). (10.1136/jmg.31.4.342) / JOURNAL OF MEDICAL GENETICS / LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA by ELKERCH F (1994)
  12. 10.1016/0092-8674(91)90035-W
  13. FARAG T.I., DUCHENNE-LIKE MUSCULAR-DYSTROPHY IN THE ARABS, AMERICAN JOURNAL OF MEDICAL GENETICS 37, 290 (1990). (10.1002/ajmg.1320370229) / AMERICAN JOURNAL OF MEDICAL GENETICS / DUCHENNE-LIKE MUSCULAR-DYSTROPHY IN THE ARABS by FARAG T.I. (1990)
  14. HEMMINGS L, ANALYSIS OF THE ACTIN-BINDING DOMAIN OF ALPHA-ACTININ BY MUTAGENESIS AND DEMONSTRATION THAT DYSTROPHIN CONTAINS A FUNCTIONALLY HOMOLOGOUS DOMAIN, JOURNAL OF CELL BIOLOGY 116, 1369 (1992). (10.1083/jcb.116.6.1369) / JOURNAL OF CELL BIOLOGY / ANALYSIS OF THE ACTIN-BINDING DOMAIN OF ALPHA-ACTININ BY MUTAGENESIS AND DEMONSTRATION THAT DYSTROPHIN CONTAINS A FUNCTIONALLY HOMOLOGOUS DOMAIN by HEMMINGS L (1992)
  15. HOFFMAN E.P., DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS, CELL 51, 919 (1987). (10.1016/0092-8674(87)90579-4) / CELL / DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS by HOFFMAN E.P. (1987)
  16. IBRAGHIMOVBESKR O, NATURE 355, 696 (1992). (10.1038/355696a0) / NATURE by IBRAGHIMOVBESKR O (1992)
  17. KOENIG M, COMPLETE CLONING OF THE DUCHENNE MUSCULAR-DYSTROPHY (DMD) CDNA AND PRELIMINARY GENOMIC ORGANIZATION OF THE DMD GENE IN NORMAL AND AFFECTED INDIVIDUALS, CELL 50, 509 (1987). (10.1016/0092-8674(87)90504-6) / CELL / COMPLETE CLONING OF THE DUCHENNE MUSCULAR-DYSTROPHY (DMD) CDNA AND PRELIMINARY GENOMIC ORGANIZATION OF THE DMD GENE IN NORMAL AND AFFECTED INDIVIDUALS by KOENIG M (1987)
  18. LEVINE B.A., THE INTERACTION OF ACTIN WITH DYSTROPHIN, FEBS LETTERS 263, 159 (1990). (10.1016/0014-5793(90)80728-2) / FEBS LETTERS / THE INTERACTION OF ACTIN WITH DYSTROPHIN by LEVINE B.A. (1990)
  19. LIM L.E., IN PRESS NATURE GENE . / IN PRESS NATURE GENE by LIM L.E.
  20. LJUNGGREN A, PRIMARY ADHALIN DEFICIENCY AS A CAUSE OF MUSCULAR-DYSTROPHY IN PATIENTS WITH NORMAL DYSTROPHIN, ANNALS OF NEUROLOGY 38, 367 (1995). (10.1002/ana.410380305) / ANNALS OF NEUROLOGY / PRIMARY ADHALIN DEFICIENCY AS A CAUSE OF MUSCULAR-DYSTROPHY IN PATIENTS WITH NORMAL DYSTROPHIN by LJUNGGREN A (1995)
  21. MCNALLY E.M., HUMAN ADHALIN IS ALTERNATIVELY SPLICED AND THE GENE IS LOCATED ON CHROMOSOME 17Q21, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 91, 9690 (1994). (10.1073/pnas.91.21.9690) / PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA / HUMAN ADHALIN IS ALTERNATIVELY SPLICED AND THE GENE IS LOCATED ON CHROMOSOME 17Q21 by MCNALLY E.M. (1994)
  22. MCNALLY E.M. unpublished data.
  23. MIZUNO Y, SELECTIVE DEFECT OF SARCOGLYCAN COMPLEX IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY MUSCLE, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 203, 979 (1994). (10.1006/bbrc.1994.2278) / BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS / SELECTIVE DEFECT OF SARCOGLYCAN COMPLEX IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY MUSCLE by MIZUNO Y (1994)
  24. MIZUNO Y unpublished data.
  25. MONACO A.P., ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE, NATURE 323, 646 (1986). (10.1038/323646a0) / NATURE / ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE by MONACO A.P. (1986)
  26. NOGUCHI S unpublished data.
  27. OZAWA E, IN PRESS HUM MOL GEN . / IN PRESS HUM MOL GEN by OZAWA E
  28. PASSOSBUENO M.R., HUM MOL GENET 4, 1163 (1995). (10.1093/hmg/4.7.1163) / HUM MOL GENET by PASSOSBUENO M.R. (1995)
  29. PICCOLO F, PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY, NATURE GENETICS 10, 243 (1995). (10.1038/ng0695-243) / NATURE GENETICS / PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY by PICCOLO F (1995)
  30. ROBERDS S.L., MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, CELL 78, 625 (1994). (10.1016/0092-8674(94)90527-4) / CELL / MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY by ROBERDS S.L. (1994)
  31. SUZUKI A, GLYCOPROTEIN-BINDING SITE OF DYSTROPHIN IS CONFINED TO THE CYSTEINE-RICH DOMAIN AND THE 1ST-HALF OF THE CARBOXY-TERMINAL DOMAIN, FEBS LETTERS 308, 154 (1992). (10.1016/0014-5793(92)81265-N) / FEBS LETTERS / GLYCOPROTEIN-BINDING SITE OF DYSTROPHIN IS CONFINED TO THE CYSTEINE-RICH DOMAIN AND THE 1ST-HALF OF THE CARBOXY-TERMINAL DOMAIN by SUZUKI A (1992)
  32. YAMAMOTO H, EXPRESSION OF DYSTROPHIN-ASSOCIATED PROTEIN 35DAG (A4) AND 50DAG (A2) IS CONFINED TO STRIATED MUSCLES, JOURNAL OF BIOCHEMISTRY 115, 162 (1994). (10.1093/oxfordjournals.jbchem.a124294) / JOURNAL OF BIOCHEMISTRY / EXPRESSION OF DYSTROPHIN-ASSOCIATED PROTEIN 35DAG (A4) AND 50DAG (A2) IS CONFINED TO STRIATED MUSCLES by YAMAMOTO H (1994)
  33. YOSHIDA M, DISSOCIATION OF THE COMPLEX OF DYSTROPHIN AND ITS ASSOCIATED PROTEINS INTO SEVERAL UNIQUE GROUPS BY N-OCTYL BETA-D-GLUCOSIDE, EUROPEAN JOURNAL OF BIOCHEMISTRY 222, 1055 (1994). (10.1111/j.1432-1033.1994.tb18958.x) / EUROPEAN JOURNAL OF BIOCHEMISTRY / DISSOCIATION OF THE COMPLEX OF DYSTROPHIN AND ITS ASSOCIATED PROTEINS INTO SEVERAL UNIQUE GROUPS BY N-OCTYL BETA-D-GLUCOSIDE by YOSHIDA M (1994)
  34. YOSHIDA M, GLYCOPROTEIN COMPLEX ANCHORING DYSTROPHIN TO SARCOLEMMA, JOURNAL OF BIOCHEMISTRY 108, 748 (1990). (10.1093/oxfordjournals.jbchem.a123276) / JOURNAL OF BIOCHEMISTRY / GLYCOPROTEIN COMPLEX ANCHORING DYSTROPHIN TO SARCOLEMMA by YOSHIDA M (1990)
  35. ZATZ M, ESTIMATE OF THE PROPORTION OF DUCHENNE MUSCULAR-DYSTROPHY WITH AUTOSOMAL RECESSIVE INHERITANCE, AMERICAN JOURNAL OF MEDICAL GENETICS 32, 407 (1989). (10.1002/ajmg.1320320328) / AMERICAN JOURNAL OF MEDICAL GENETICS / ESTIMATE OF THE PROPORTION OF DUCHENNE MUSCULAR-DYSTROPHY WITH AUTOSOMAL RECESSIVE INHERITANCE by ZATZ M (1989)
Dates
Type When
Created 18 years, 10 months ago (Oct. 27, 2006, 2:19 p.m.)
Deposited 1 year, 7 months ago (Jan. 12, 2024, 4:14 p.m.)
Indexed 5 days, 15 hours ago (Aug. 28, 2025, 8:49 a.m.)
Issued 29 years, 10 months ago (Nov. 3, 1995)
Published 29 years, 10 months ago (Nov. 3, 1995)
Published Print 29 years, 10 months ago (Nov. 3, 1995)
Funders 0

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@article{Noguchi_1995, title={Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy}, volume={270}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.270.5237.819}, DOI={10.1126/science.270.5237.819}, number={5237}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Noguchi, Satoru and McNally, Elizabeth M. and Othmane, Kamel Ben and Hagiwara, Yasuko and Mizuno, Yuji and Yoshida, Mikiharu and Yamamoto, Hideko and Bönnemann, Carsten G. and Gussoni, Emanuela and Denton, Peter H. and Kyriakides, Theodoros and Middleton, Lefkos and Hentati, Faycal and Hamida, Mongi Ben and Nonaka, Ikuya and Vance, Jeffery M. and Kunkel, Louis M. and Ozawa, Eijiro}, year={1995}, month=nov, pages={819–822} }