Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development

Genomics

Volumn 48, Issue 2, 1998, Pages 145-156

  Fougerousse, Françoise ^a   Durand, Muriel ^a   Suel, Laurence ^a   Pourquié, Olivier ^b   Delezoide, Anne Lise ^c   Romero, Norma B ^d   Abitbol, Marc ^e   Beckmann, Jacques S ^a  

^a GÉNÉTHON   (France)

^b AIX MARSEILLE UNIVERSITÉ   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e CERTO   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; CONNECTIN; SARCOGLYCAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; EMBRYO; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE DEVELOPMENT; MUSCULAR DYSTROPHY; MYOPATHY; MYOTOMY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSLATION; SKELETAL MUSCLE;

MAMMALIA;

EID: 0032033322     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5160     Document Type: Article

References (28)

1. Beckmann J. S., Bushby K. M. D. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. Curr. Opin. Neurol. 9:1996;389-393.
2. Beckmann, J. S. Fardeau, M. Limb girdle muscular dystrophies, In, Inherited Neuromuscular Dystrophies: Recents Advances and Future Prospects, Chichester, U.K. 123, 156.
3. Bönnemann C. G., Modi R., Noguchi S., Mizuno Y., Yoshida M., Gussoni E., McNally E. M., Duggan D. J., Angelini C., Hoffman E. P., Ozawa E., Kunkel L. M. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat. Genet. 11:1995;266-273.
4. Campbell K. P. Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage. Cell. 80:1995;675-679.
5. Couly G. F., Coltey P. M., Le Douarain N. M. The developmental fate of the cephalic mesoderm in quail-chick chimeras. Development. 114:1992;1-15.
6. Fardeau M., Hillaire D., Mignard C., Feingold N., Mignard D., de Ubeda B., Collin H., Tomé F. M. S., Richard I., Beckmann J. S. Juvenile limb-girdle muscular dystrophy: Clinical, histopathological, and genetic data from a small community living in the Réunion Island. Brain. 119:1996;295-308.
7. Kolmerer B., Olivieri N., Witt C. C., Herrmann B. G., Labeit S. Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms. J. Mol. Biol. 256:1996;556-563.
8. Labeit S., Kolmerer B. Titins: Giant proteins in charge of muscle ultrastructure and elasticity. Science. 270:1995;293-296.
9. Labeit S., Kolmerer B., Linke W. A. The giant protein titin. Emerging roles in physiology and pathophysiology. Circ. Res. 80:1997;290-294.
10. Larsen W. J. Development of the peripheral nervous system. Human Embryology. 1993;Churchill Livingston, New York/London. p. 93-110.
11. Lazar V., Diez S. G., Laurent A., Giovangrandi Y., Radvanyi F., Chopin D., Bidart J. M., Bellet D., Vidaud M. Expression of human chorionic gonadotropin β-subunit genes in superficial and invasive bladder carcinomas. Cancer Res. 55:1995;3735-3738.
12. Lim L. E., Duclos F., Broux O., Bourg N., Sunada Y., Allamand V., Meyer J., Richard R I., Moomaw C., Slaughter C., Tomé F. M. S., Fardeau M., Jackson C. E., Beckmann J. S., Campbell K. P. β Sarcoglycan (43 DAG): Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat. Genet. 11:1995;257-265.
13. McNally E. M., Yoshida M., Mizuno Y., Ozawa E., Kunkel L. M. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc. Natl. Acad. Sci. USA. 91:1994;9690-9694.
14. Nigro V., de Sà Moreira E., Piluso G., Vainzof M., Belsito A., Politano L., Puca A. A., Passos-Bueno M-R., Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat. Genet. 14:1996;195-198.
15. Noguchi S., McNally E. M., Ben Othmane K., Hagiwara Y., Mizuno Y., Yoshida M., Yamamoto H., Bönnemann C. G., Gussoni E., Denton P. H., Kyriakides T., Middleton L., Hentati F., Ben Hamida M., Nonaka I., Vance J. M., Kunkel L. M., Ozawa E. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822.
16. Ohno, S. Emori, Y. Imajoh, S. Kawasaki, H. Kisaragi, M. Susuki, K. 1984, Evolutionary origin of a calcium-dependent protease by fusion of genes for a thiol protease and a calcium-binding protein?, Nature, 312, 566, 570.
17. O'Rahilly R., Muller F. Developmental stages in human embryos. Carnegie Institution of Washington Publication 637. 1987.
18. Ozawa E., Yoshida M., Suzuki A., Mizuno Y., Hagiwara Y., Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum. Mol. Genet. 4:1995;1711-1716.
19. Pannetier C., Delassus S., Darche S., Saucier C., Kourilsky P. Quantitative titration of nucleic acids by enzymatic amplification reactions run to saturation. Nucleic Acids Res. 21:1993;577-583.
20. Richard I., Broux O., Allamand V., Fougerousse F., Chiannilkulchai N., Bourg N., Brenguier L., Devaud C., Pasturaud P., Roudaut C., Hillaire D., Passos-Bueno M-R., Zatz M., Tischfield J. A., Fardeau M., Jackson C. E., Cohen D., Beckmann J. S. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 81:1995;27-40.
21. Roberds S. L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R. D., Lim L. E., Lee J. C., Tomé F. M. S., Romero N. B., Fardeau M., Beckmann J. S., Kaplan J. C., Campbell K. P. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 78:1994;625-633.
22. Schofield J. N., Gorecki D. C., Blake D. J., Davies K., Edwards Y. H. Dystroglycan mRNA expression during normal andmdx. Dev. Dyn. 204:1995;178-185.
23. Sorimachi H., Imajoh-Ohmi S., Emori Y., Kawasaki H., Ohno S., Minami Y., Susuki K. Molecular cloning of a novel mammalian calcium-dependant protease distinct from both m- and mu-type: Specific expression of the mRNA in skeletal muscle. J. Biol. Chem. 264:1989;20106-20111.
24. Sorimachi H., Kinbara K., Kimura S., Takahashi M., Ishiura S., Sasagawa N., Sorimachi N., Shimada H., Tagawa K., Maruyama K., Suzuki K. Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J. Biol. Chem. 270:1995;31158-31162.
25. Strachan T., Abitbol M., Davidson D., Beckmann J. S. A new dimension for the Human Genome Project: Towards comprehensive expression maps. Nat. Genet. 16:1997;126-132.
26. Suzuki K., Sorimachi H., Yoshizawa T., Kinbara K., Ishiura S. Calpain: Novel family members, activation, and physiological function. Biol. Chem. 376:1995;523-529.
27. Tomé F. M. S., Matsumura K., Chevallay M., Campbell K. P., Fardeau M. Expression of dystrophin-associated glycoproteins during human fetal muscle development: A preliminary immunocytochemical study. Neuromusc. Disord. 4:1994;343-348.
28. Worton R. Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex. Science. 270:1995;755-756.