Submitted to: Animal Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 4/24/2003
Publication Date: 8/1/2003
Citation: KIM, J.G., NONNEMAN, D.J., ROHRER, G.A., VALLET, J.L., CHRISTENSON, R.K. BRIEF NOTE. LINKAGE MAPPING OF A SNP IN THE PORCINE MADH1 GENE TO A REGION OF CHROMOSOME 8 THAT CONTAINS QTL FOR UTERINE CAPACITY. ANIMAL GENETICS. 2003. v. 34(4). p. 310-311. Interpretive Summary: Uterine capacity is an important trait contributing to litter size in swine. Improving uterine capacity will benefit the swine industry. Previous gene mapping analyses identified a region on chromosome 8 that is important for uterine capacity. Comparison of porcine and human genetic maps suggests that the mothers against decapentaplegic homolog 1 (Drosophila) (MADH1) gene may be located in this region. In addition, MADH1 mutant mice die due to defects in allantois formation. However, MADH1 cDNA sequence or the location of the gene in the porcine genome is not known. As a first step to determine whether the MADH1 gene influence female reproductive function, a cDNA clone containing the full coding region of the MADH1 (GenBank accession no. AY245888) was isolated from the "Meat Animal Research Center (MARC) 2PIG" expressed sequence tag (EST) library and the MADH1 gene was mapped to chromosome 8 position 78 cM within the uterine capacity QTL.
Technical Abstract: Homo sapiens mothers against decapentaplegic homolog 1 (Drosophila) (MADH1) belongs to a family of proteins that mediate signal transduction from TGF-beta family ligands, including TGF-beta and bone morphogenetic proteins. Comparison of porcine and human genetic maps suggests that porcine MADH1 is located near the uterine capacity quantitative trait locus (QTL) on chromosome 8. In addition, MADH1 mRNA is expressed in vascular endothelial cells of mouse decidua and MADH1 mutant mice die due to defects in allantois formation. A cDNA clone (2077 bp) containing the full coding region of the porcine MADH1 was isolated (GenBank accession no. AY245888) from the "Meat Animal Research Center (MARC) 2PIG" expressed sequence tag (EST) primary library by iterative screening and sequenced. For SNP detection, primers were designed to amplify a 419 bp product in the 3' untranslated region of the cDNA. This region was evaluated for SNP in the eight parents (seven F1 sows and one White composite boar) of the MARC Swine Reference Population by sequencing PCR products amplified from genomic DNA. Both strands of the amplified genomic DNA of parents from the MARC Swine Reference Population were sequenced and evaluated for polymorphisms. A C/G single nucleotide polymorphism was detected at position 1842 of the porcine MADH1 cDNA (GenBank accession no. AY245888). This polymorphism was heterozygous in 3 of the 7 F1 sows. This marker generated 38 informative meioses in the MARC swine reference population. The MADH1 gene was mapped to chromosome 8 position 78 cM, which is the same position as marker KS139 on the current MARC swine chromosome 8 linkage map (http://www.marc.usda.gov/) using CRI-MAP. The most significant two-point linkage detected was with KS139 (LOD = 10.24) at 0 recombination. MADH1 maps within the uterine capacity QTL on chromosome 8. The human MADH1 gene is located on chromosome 4q28, which shares homology with swine chromosome 8.