Identification of an FBN1 mutation in bovine Marfan syndrome-like disease

Animal Genetics

Volumn 43, Issue 1, 2012, Pages 11-17

  Hirano, T ^a   Matsuhashi, T ^b   Kobayashi, N ^b   Watanabe, T ^a   Sugimoto, Y ^a  

^a Shirakawa Institute of Animal Genetics   (Japan)

^b Gifu Prefectural Livestock Research Institute   (Japan)

Author keywords

cattle; fibrillin 1; Marfan syndrome; mosaicism; splicing accepter site

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ANIMAL; ARTICLE; CATTLE; CATTLE DISEASE; FEMALE; GENETICS; MALE; MARFAN SYNDROME; MOSAICISM; MUTATION;

ANIMALS; CATTLE; CATTLE DISEASES; FEMALE; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOSAICISM; MUTATION;

ANIMALIA; BOS; BOVINAE;

EID: 84855709738     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/j.1365-2052.2011.02209.x     Document Type: Article

References (16)

1. Akutsu K., Norisaki H., Takeshita S., Sakamoto S., Tamori Y., Yoshimura T., Yokoyama N., Nonogi H., Ogino H., &, Morisaki T., (2007) Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-β receptor genes. Circulation Journal 71, 1305-9. (Pubitemid 47195351)
2. Churchill G.A., &, Doerge R.W., (1994) Empirical threshold values for quantitative trait mapping. Genetics 138, 963-71. (Pubitemid 24337818)
3. Dietz H.C., Cutting G.R., Pyeritz R.E., et al. (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337-9. (Pubitemid 21912353)
4. Haley C.S., Knott S.A., &, Elsen J.M., (1994) Mapping QTL in crosses between outbred lines using least squares. Genetics 136, 1195-207. (Pubitemid 24085665)
5. Hirano T., Nakane S., Mizoshita K., Yamakuchi H., Inoue-Murayama M., Watanabe T., Barendse W., &, Sugimoto Y., (1996) Characterization of 42 highly polymorphic bovine microsatellite markers. Animal Genetics 27, 365-8. (Pubitemid 27010256)
6. Ihara N., Takasuga A., Mizoshita K., et al. (2004) A comprehensive genetic map of the cattle genome based on 3802 microsatellites. Genome Research 14, 1987-98. (Pubitemid 39386513)
7. Judge D.P., &, Dietz H.C., (2005) Marfan's syndrome. Lancet 366, 1965-76. (Pubitemid 41713988)
8. Kappes S.M., Keel J.W., Stone R.T., McGraw R.A., Sonstegard T.S., Smith T.P.L., Lopez-Corrales N.L., &, Beattie C.W., (1997) A second-generation linkage map of the bovine genome. Genome Research 7, 235-49. (Pubitemid 27165690)
9. Kielty C.M., Baldock C., Lee D., Rock M.J., Ashworth J.L., &, Shuttleworth C.A., (2002) Fibrillin: from microfibril assembly to biomechanical function. Philosophical Transactions of the Royal Society London, Series B: Biological Sciences 357, 207-17. (Pubitemid 34276212)
10. Marson A., Rock M.J., Cain S.A., Freeman L.J., Morgan A., Mellody K., Shuttleworth C.A., Baldock C., &, Kielty C.M., (2005) Homotypic Fibrillin-1 interactions in microfibril assembly. The Journal of Biological Chemistry 280, 5013-21. (Pubitemid 40288677)
11. Nijbroek G., Sood S., Mclntosh I., Francomano C.A., Bull E., Pereira L., Ramirez F., Pyeritz R.E., &, Dietz H.C., (1995) Fifteen novel FBN1 mutation causing Marfan syndrome detected by heteroduplex analysis of genomic amplifications. American Journal of Human Genetics 57, 8-21.
12. Robinson P.N., Booms P., Katzke S., Ladewig M., Neumann L., Palz M., Pregla R., Tiecke F., &, Rosenberg T., (2002) Mutation of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation 20, 153-61. (Pubitemid 34966843)
13. Seaton G., Haley C.S., Knott S.A., Kearsey M., &, Visscher P.M., (2002) QTL Express: mapping quantitative trait loci in simple and complex pedigrees. Bioinformatics 18, 339-40. (Pubitemid 34183120)
14. Singleton A.C., Mitchell A.L., Byers P.H., Potter K.A., &, Pace J.M., (2005) Bovine model of marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of Fibrillin-1. Human Mutation 25, 348-52. (Pubitemid 40524662)
15. Visscher P.M., Thompson R., &, Haley C.S., (1996) Confidence intervals in QTL mapping by bootstrapping. Genetics 143, 1013-20. (Pubitemid 26001097)
16. Xu S., &, Atchley W.R., (1996) Mapping quantitative trait loci for complex binary diseases using line crosses. Genetics, 143, 1417-24. (Pubitemid 26238573)