Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 Stefán Einar Stefánsson, Helgi Jónsson, Thorvaldur Ingvarsson, Ileana Manolescu,

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Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 Stefán Einar Stefánsson, Helgi Jónsson, Thorvaldur Ingvarsson, Ileana Manolescu, Hjörtur H. Jónsson, Guðbjörg Ólafsdóttir, Ebba Pálsdóttir, Gerður Stefánsdóttir, Guðfinna Sveinbjörnsdóttir, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, Kári Stefánsson The American Journal of Human Genetics Volume 72, Issue 6, Pages 1448-1459 (June 2003) DOI: 10.1086/375556 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Framework genomewide scan for 329 families with 1,143 individuals with idiopathic hand OA, using a 1,000-marker screening set. The allele-sharing LOD score is given on the Y-axis, and the genetic location (in Kosambi cM) is given on the X-axis. The American Journal of Human Genetics 2003 72, 1448-1459DOI: (10.1086/375556) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Fine-mapping results for chromosomes 2, 3, and 4 for the cohorts with idiopathic hand OA and the DIP, CMC1, and DIP/CMC1 phenotypes. The allele-sharing LOD score is given on the Y-axis, and the genetic location (in Kosambi cM) is given on the X-axis. The American Journal of Human Genetics 2003 72, 1448-1459DOI: (10.1086/375556) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 Allelic variation in MATN3. The top chromatogram shows the nucleotide sequence for an individual homozygous for the allele for the predicted missense mutation resulting in methionine residue (ATG codon). The center chromatograph depicts the sequence for an individual heterozygous for the allele, and the bottom chromatograph shows the sequence for an individual homozygous for the threonine residue (ACG codon). The nucleotide highlighted in red depicts the polymorphic allele. The American Journal of Human Genetics 2003 72, 1448-1459DOI: (10.1086/375556) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 4 Alignment of amino acid residues for all four EGF domains of matrilin-3 from human (HuEGF1–4), mouse (MouEGF1–4), and chicken (ChEGF1–4). Residues conserved in all EGF domains are highlighted in green. The predicted missense mutation at position 303 in MATN3 from human protein sequence changes the threonine residue (boldface) to methionine. The American Journal of Human Genetics 2003 72, 1448-1459DOI: (10.1086/375556) Copyright © 2003 The American Society of Human Genetics Terms and Conditions