Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis M. Taipale, E. Jakkula, O.-P.

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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis M. Taipale, E. Jakkula, O.-P. Kämäräinen, P. Gao, S. Skarp, S. Barral, I. Kiviranta, H. Kröger, J. Ott, G.-H. Wei, L. Ala-Kokko, M. Männikkö Osteoarthritis and Cartilage Volume 24, Issue 4, Pages 655-663 (April 2016) DOI: 10.1016/j.joca.2015.10.019 Copyright © 2015 The Authors Terms and Conditions

Fig. 1 Pedigree structure of family 10. A black dot beneath an individual indicates that DNA was available for genetic analysis. Individuals marked with question marks have unknown clinical status. Asterisk denotes individuals that were exome sequenced and open circles targeted re-sequenced individuals. Osteoarthritis and Cartilage 2016 24, 655-663DOI: (10.1016/j.joca.2015.10.019) Copyright © 2015 The Authors Terms and Conditions

Fig. 2 Multipoint and two-point LOD scores from the second fine mapping on chromosome 2 under a recessive mode of inheritance. Osteoarthritis and Cartilage 2016 24, 655-663DOI: (10.1016/j.joca.2015.10.019) Copyright © 2015 The Authors Terms and Conditions

Fig. 3 (A) A shot from UCSC genome browser to illustrate the location of non-coding insertion rs11446594 in relation to predicted regulatory regions in HSMM cell line. The location of rs11446594 is highlighted by vertical line. It is located on strong enhancer element predicted by chromHMM. (B) Genomic sequence surrounding the SNP rs11446594 is aligned to a LOGO graphic representation of ELF3 and HMGA1 transcription factor DNA-binding motifs. Note that rs11446594 physically maps to an ELF3 and HMGA1 binding site, respectively, as shown in the positional weight matrixes (PWMs) of ELF3 and HMGA1 DNA-binding motif generated by protein binding microarray27. (C) The affinity of ELF3 and HMGA1 binding to rs11446594 A and null alleles is predicted by EEL algorithm26. Note that the variant A allele at rs11446594 may create a recognition sequence for Elf3 and HMGA1 transcription factors, respectively. Osteoarthritis and Cartilage 2016 24, 655-663DOI: (10.1016/j.joca.2015.10.019) Copyright © 2015 The Authors Terms and Conditions