A Large French Case-Control Study Emphasizes the Role of Rare <i>Mc1R</i> Variants in Melanoma Risk

<table>Structure of human melanocortin-1 receptor. Putative structure is drawn according to the two-dimensional model of Ringholm et al., 2004 [<a href="/journals/bmri/2014/925716/#B44">54</a>]. The amino acid sequence corresponds to the wildtype consensus (UniProtKB Q01726.2). Each protein domain is framed by residues marked in blue. Residues with <svg height="11.3125" id="M24" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 11.075 11.3125" width="11.075" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.113)"><path d="M627 18l-10 -26q-79 6 -116 27t-69 76q-41 71 -71 138q-13 29 -27.5 39t-42.5 10h-46l-27 -145q-13 -74 -2.5 -88.5t78.5 -20.5l-6 -28h-271l5 28q66 6 82.5 21.5t30.5 87.5l71 387q12 66 2 78.5t-77 19.5l8 28h233q102 0 147 -29q65 -43 65 -129q0 -69 -45.5 -117
t-115.5 -72q40 -86 66 -133q39 -68 65 -101q28 -37 73 -51zM491 483q0 67 -33.5 101t-91.5 34q-35 0 -51 -10q-13 -8 -20 -48l-45 -245h49q71 0 113 28q79 52 79 140z" id="x1D445"></path></g>
</svg>, frequent <svg height="7.9499998" id="M25" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 7.3000002 7.9499998" width="7.3000002" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,7.675)"><path d="M393 379q-9 -16 -28 -29q-15 -10 -23 -2q-19 19 -36 19q-21 0 -52 -38q-57 -72 -82 -126l-40 -197q-23 -3 -75 -18l-7 7q49 196 74 335q7 43 -2 43q-7 0 -30 -14.5t-47 -37.5l-16 23q37 42 82 73t67 31q41 0 15 -113l-11 -50h4q41 71 85 117t77 46q29 0 45 -26
q13 -21 0 -43z" id="x1D45F"></path></g>
</svg>, and predicted-to-be-damaging (<svg height="11.175" id="M26" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 13.775 11.175" width="13.775" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.113)"><path d="M780 372q0 -191 -178 -297q-128 -75 -335 -75h-250l7 27q61 7 77 22t28 76l77 398q11 62 0 76.5t-77 22.5l6 28h292q164 0 258.5 -67.5t94.5 -210.5zM678 375q0 119 -73 180.5t-201 61.5q-62 0 -82 -13q-17 -7 -25 -53l-80 -427q-8 -47 -4 -62t26 -20q24 -6 80 -6
q166 0 262.5 95t96.5 244z" id="x1D437"></path></g>
</svg>) alleles are shown in red, pink, and yellow, respectively. Ec: extracellular domain; Ic: intracellular domain; TM: transmembrane domain; <svg height="11.3125" id="M27" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 11.075 11.3125" width="11.075" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.113)"><path d="M627 18l-10 -26q-79 6 -116 27t-69 76q-41 71 -71 138q-13 29 -27.5 39t-42.5 10h-46l-27 -145q-13 -74 -2.5 -88.5t78.5 -20.5l-6 -28h-271l5 28q66 6 82.5 21.5t30.5 87.5l71 387q12 66 2 78.5t-77 19.5l8 28h233q102 0 147 -29q65 -43 65 -129q0 -69 -45.5 -117
t-115.5 -72q40 -86 66 -133q39 -68 65 -101q28 -37 73 -51zM491 483q0 67 -33.5 101t-91.5 34q-35 0 -51 -10q-13 -8 -20 -48l-45 -245h49q71 0 113 28q79 52 79 140z" id="x1D445"></path></g>
</svg>: RHC alleles; <svg height="7.9499998" id="M28" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 7.3000002 7.9499998" width="7.3000002" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,7.675)"><path d="M393 379q-9 -16 -28 -29q-15 -10 -23 -2q-19 19 -36 19q-21 0 -52 -38q-57 -72 -82 -126l-40 -197q-23 -3 -75 -18l-7 7q49 196 74 335q7 43 -2 43q-7 0 -30 -14.5t-47 -37.5l-16 23q37 42 82 73t67 31q41 0 15 -113l-11 -50h4q41 71 85 117t77 46q29 0 45 -26
q13 -21 0 -43z" id="x1D45F"></path></g>
</svg>: frequent non-RHC alleles; <svg height="11.175" id="M29" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 13.775 11.175" width="13.775" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.113)"><path d="M780 372q0 -191 -178 -297q-128 -75 -335 -75h-250l7 27q61 7 77 22t28 76l77 398q11 62 0 76.5t-77 22.5l6 28h292q164 0 258.5 -67.5t94.5 -210.5zM678 375q0 119 -73 180.5t-201 61.5q-62 0 -82 -13q-17 -7 -25 -53l-80 -427q-8 -47 -4 -62t26 -20q24 -6 80 -6
q166 0 262.5 95t96.5 244z" id="x1D437"></path></g>
</svg>: predicted damaging variants.</table>

BioMed Research International

fig1

Figure 1

Figure 1: A Large French Case-Control Study Emphasizes the Role of Rare <i>Mc1R</i> Variants in Melanoma Risk 

BioMed Research International

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

Figure 1