Open Access Research article

A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle

Stacey N Meyers1, Tara G McDaneld2, Shannon L Swist3, Brandy M Marron1, David J Steffen4, Donal O'Toole3, Jeffrey R O'Connell5, Jonathan E Beever1, Tad S Sonstegard6 and Timothy PL Smith2*

Author Affiliations

1 Laboratory of Molecular Genetics, Department of Animal Sciences, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA

2 U.S. Meat Animal Research Center, USDA, ARS, Clay Center, Nebraska, USA

3 Department of Veterinary Sciences, University of Wyoming, Laramie, WY 82070, USA

4 Department of Veterinary and Biomedical Sciences, Institute of Agriculture and Natural Resources, University of Nebraska, Lincoln, NE 68583, USA

5 University of Maryland School of Medicine, Baltimore, MD 21201, USA

6 Bovine Functional Genomics Laboratory, United States Department of Agriculture, Agricultural Research Service, Beltsville, Maryland, USA

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BMC Genomics 2010, 11:337  doi:10.1186/1471-2164-11-337

Published: 27 May 2010

Additional files

Additional file 1:

Table S1: Combined homozygosity analysis.

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Additional file 2:

Table S2: Novel microsatellite marker primers.

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Additional file 3:

Figure S1: Red Angus Osteopetrosis Disease Locus Sequence Information. Figure S1A displays the bovine SLC4A2 genomic sequence encompassing the deletion mutation associated with osteopetrosis in Red Angus cattle. Exon sequences are bracketed and highlighted with green bold text. Exons 1-4 are shown, and the start of exon 1 corresponds to the 5' transcriptional start of GenBank accession number DV927173. Splice donor (GT) and acceptor (AG) sites are highlighted in black bold text. The start codon within exon 2 is highlighted in red bold text. The 2781-bp deleted sequence is shaded gray, and each breakpoint is marked by a bold double slash (//). Sequences denoted with a double strikethrough were identified as repetitive by RepeatMasker. Figure S1B indicates the amplicon sequences generated from the PCR-based deletion mutation genotyping assay. Amplicon sizes in base pairs are noted. Primer sites (sense strand) are underlined. The deleted sequence is denoted by the triangle symbol (black triangle).

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Additional file 4:

Table S3: Candidate gene primers.

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