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Highly effective SNP-based association mapping and management of recessive defects in livestock

Open access
Charlier, Carole, Coppieters, Wouter, Rollin, Frédéric, Desmecht, Daniel, Agerholm, Jorgen S, Cambisano, Nadine, Carta, Eloisa, Dardano, Sabrina, Dive, Marc, Fasquelle, Corinne, Frennet, Jean-Claude, Hanset, Roger, Hubin, Xavier, Jorgensen, Claus, Karim, Latifa, Kent, Matthew, Harvey, Kirsten, Pearce, Brian R, Simon, Patricia, Tama, Nico, Nie, Haisheng, Vandeputte, Sébastien, Lien, Sigbjorn, Longeri, Maria, Fredholm, Merete, Harvey, Robert J, Georges, Michel·2008·Nature Genetics

Abstract

The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects. We report the fine-scale mapping of five recessive disorders in cattle and the molecular basis for three of these: congenital muscular dystony (CMD) types 1 and 2 in Belgian Blue cattle and ichthyosis fetalis in Italian Chianina cattle. Identification of these causative mutations has an immediate translation into breeding practice, allowing marker assisted selection against the defects through avoidance of at-risk matings.

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Metadata

Authors
Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J. S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, J.-C., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, B. R., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, R. J., & Georges, M.
Venue
Nature Genetics
Published
2008-03-16
Volume
40
Issue
4
Pages
449-454
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2043107286
Cited by
329
References
0
FWCI
13.36
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Highly effective SNP-based association mapping and management of recessive defects in livestock. https://app.cochat.ai/papers/10.1038/ng.96
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Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J. S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, J.-C., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, B. R., Simon, P., . . . Georges, M. (2008). Highly effective SNP-based association mapping and management of recessive defects in livestock. Nature Genetics. https://doi.org/10.1038/ng.96

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