The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogsStabej P.a · Leegwater P.A.J.a · Imholz S.a · Versteeg S.A.a · Zijlstra C.b · Stokhof A.A.a · Domanjko-Petriè A.d · van Oost B.A.c
Departments of aClinical Sciences of Companion Animals, bBiochemistry and Cell Biology and cAnimals, Science and Society, Faculty of Veterinary Medicine, Utrecht University, Utrecht (The Netherlands); dVeterinary Faculty, Clinic for Surgery and Small Animal Medicine, University of Ljubljana, Ljubljana (Slovenia)
Do you have an account?
- Rent for 48h to view
- Buy Cloud Access for unlimited viewing via different devices
- Synchronizing in the ReadCube Cloud
- Printing and saving restrictions apply
Rental: USD 8.50
Cloud: USD 20.00
Dilated cardiomyopathy (DCM) is a common disease of the myocardium recognized in human, dog and experimental animals. Genetic factors are responsible for a large proportion of cases in humans, and 17 genes with DCM causing mutations have been identified. The genetic origin of DCM in the Dobermann dogs has been suggested, but no disease genes have been identified to date. In this paper, we describe the characterization and evaluation of the canine sarcoglycan delta (SGCD), a gene implicated in DCM in human and hamster. Bacterial artificial chromosomes (BACs) containing the canine SGCD gene were isolated with probes for exon 3 and exons 4–8 and were characterized by Southern blot analysis. BAC end sequences were obtained for four BACs. Three of the BACs overlapped and could be ordered relative to each other and the end sequences of all four BACs could be anchored on the preliminary assembly of the dog genome sequence (www. ensembl.org). One of the BACs of the partial contig was localized by fluorescent in situ hybridization to canine chromosome 4q22, in agreement with the dog genome sequence. Two highly informative polymorphic microsatellite markers in intron 7 of the SGCD gene were identified. In 25 DCM-affected and 13 non DCM-affected dogs seven different haplotypes could be distinguished. However, no association between any of the SGCD variants and the disease locus was apparent.
© 2005 S. Karger AG, Basel
- Breen M, Bullerdiek J, Langford CF: The DAPI banded karyotype of the domestic dog (Canis familiaris) generated using chromosome-specific paint probes. Chromosome Res 7:401–406 (1999a).
- Breen M, Thomas R, Binns MM, Carter NP, Langford CF: Reciprocal chromosome painting reveals detailed regions of conserved synteny between the karyotypes of the domestic dog (Canis familiaris) and human. Genomics 61:145–155 (1999b).
- Breen M, Jouquand S, Renier C, Mellersh CS, Hitte C, Holmes NG, et al: Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Res 11:1784–1795 (2001).
- Calvert CA, Jacobs GJ, Smith DD, Rathbun SL, Pickus CW: Association between results of ambulatory electrocardiography and development of cardiomyopathy during long-term follow-up of Doberman pinschers. J Am Vet Med Assoc 216:34–39 (2000).
- Domanjko-Petrič A, Stabej P, Žemva A: Dilated cardiomyopathy in Doberman pinschers: survival, causes of death and a pedigree review in a related line. J Vet Card 4:17–24 (2002).
- Dukes-McEwan J, Borgarelli M, Tidholm A, Vollmar AC, Haggstrom J: Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Card 5:7–19 (2003).
- Fatkin D, Graham RM: Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 82:945–980 (2002).
- Guyon R, Lorentzen TD, Hitte C, Kim L, Cadieu E, Parker HG, Quignon P, Lowe JK, Renier C, Gelfenbeyn B, Vignaux F, DeFrance HB, Gloux S, Mahairas GG, Andre C, Galibert F, Ostrander EA: A 1-Mb resolution radiation hybrid map of the canine genome. Proc Natl Acad Sci USA 100:5296–5301 (2003).
- Han CS, Sutherland RD, Jewett PB, Campbell ML, Meincke LJ, Tesmer JG, Mundt MO, Fawcett JJ, Kim UJ, Deaven LL, Doggett NA: Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization. Genome Res 10:714–721 (2000).
- Hemler ME: Dystroglycan versatility. Cell 97:543–546 (1999).
- Karkkainen S, Miettinen R, Tuomainen P, Karkkainen P, Helio T, Reissell E, et al: A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J Mol Med 81:795–800 (2003).
- Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, et al: The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111:943–955 (2002).
- Lantinga-van Leeuwen IS, Kooistra HS, Mol JA, Renier C, Breen M, van Oost BA: Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs. Cytogenet Cell Genet 88:140–144 (2000).
- Lennon GG, Auffray C, Polymeropoulos M, Soares MB: The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics 33:151–152 (1996).
- Li R, Mignot E, Faraco J, Kadotani H, Cantanese J, Zhao B, Lin X, Hinton L, Ostrander EA, Patterson DF, de Jong PJ: Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library. Genomics 58:9–17 (1999).
- Makinen A, Zijlstra C, de Haan NA, Mellink CH, Bosma AA: Localization of 18S + 28S and 5S ribosomal RNA genes in the dog by fluorescence in situ hybridization. Cytogenet Cell Genet 78:231–235 (1997).
- Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215 (1988).
- Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ: Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363:371–372 (2004).
- Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, et al: Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 6:601–607 (1997).
- Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 5:1179–1186 (1996).
- Ostrander EA, Comstock KE: The domestic dog genome. Curr Biol 14:R98–99 (2004).
- Ostrander EA, Galibert F, Patterson DF: Canine genetics comes of age. Trends Genet 16:117–124 (2000).
- Patterson DF: Companion animal medicine in the age of medical genetics. J Vet Intern Med 14:1–9 (2000).
- Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P: Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 93:841–842 (1996).
Rozen S, Skaletsky HJ: Primer3 on the WWW for general users and for biologist programmers, in Krawetz S, Misener S (eds): Bioinformatics Methods and Protocols: Methods in Molecular Biology, pp 365–386 (Humana Press, Totowa 2000).
- Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, Masaki T, Toyo-oka T, Hanaoka F: Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA 94:13873–13878 (1997).
Sambrook J, Russel DW: Molecular Cloning: A Laboratory Manual, 3rd ed (Cold Spring Harbor Laboratory Press, Cold Spring Harbor 2001).
- Schmitt JP, Kamisago M, Asahi M, et al: Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299:1410–1413 (2003).
Sisson DD, Thomas WP: Myocardial diseases, in Ettinger SJ, Feldman EC (eds): Textbook of Veterinary Internal Medicine, 4th ed, pp 995–1011 (WB Saunders Co, Philadelphia 1995).
- Switonski M, Reimann N, Bosma AA, Long S, Bartnitzke S, Pienkowska A, Moreno-Milan MM, Fischer P: Report on the progress of standardization of the G-banded canine (Canis familiaris) karyotype. Committee for the Standardized Karyotype of the Dog (Canis familiaris). Chromosome Res 4:306–309 (1996).
- Thomas WP, Gaber CE, Jacobs GJ, Kaplan PM, Lombard CW, Moise NS, Moses BL: Recommendations for standards in transthoracic two-dimensional echocardiography in the dog and cat. Echocardiography Committee of the Specialty of Cardiology, American College of Veterinary Internal Medicine. J Vet Intern Med 7:247–252 (1993).
- Towbin JA, Bowles NE: Genetic abnormalities responsible for dilated cardiomyopathy. Curr Cardiol Rep 2:475–480 (2000).
- Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106:655–662 (2000).
- van den Berg L, Imholz S, Versteeg SA, Leegwater PA, Zijlstra C, Bosma AA, van Oost BA: Isolation and characterization of the canine serotonin receptor 1B gene (htr1B). Gene 326:131–139 (2004).
- van de Sluis B, Nanji MS, Breen M, Pearson PL, Oost BA, Cox DW, Wijmenga C: Characterization and chromosomal localization of five canine ATOX1 pseudogenes. Cytogenet Cell Genet 93:105–108 (2001).
- Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, et al: Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42:2014–2027 (2003).
- Yang F, O’Brien PC, Milne BS, Graphodatsky AS, Solanky N, Trifonov V, Rens W, Sargan D, Ferguson-Smith MA: A complete comparative chromosome map for the dog, red fox, and human and its integration with canine genetic maps. Genomics 62:189–202 (1999).
- Zijlstra C, Mellink CH, de Haan NA, Bosma AA: Localization of the 18S, 5.8S and 28S rRNA genes and the 5S rRNA genes in the babirusa and the white-lipped peccary. Cytogenet Cell Genet 77:273–277 (1997).
Article / Publication Details
Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.