Ameli Norling, M. D. , Angelica Lindén Hirschberg, M. D. , Ph. D

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CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development Ameli Norling, M.D., Angelica Lindén Hirschberg, M.D., Ph.D., Erik Iwarsson, M.D., Ph.D., Anna Wedell, M.D., Ph.D., Michela Barbaro, Ph.D. Fertility and Sterility Volume 99, Issue 3, Pages 819-826.e3 (March 2013) DOI: 10.1016/j.fertnstert.2012.11.016 Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 1 CBX2 gene and MLPA probe location. Representation from the UCSC genome browser GRCh37/hg19 assembly. Vertical red lines represent MLPA probes. The CBX2 gene isoforms are illustrated: isoform 1 above, and isoform 2 below in blue. Red and brown horizontal lines represent reported CNVs, 0213: Iafrate et al. 2004 (25), 114499: Park et al. 2010 (27), 2234: Locke et al. 2006 (26), and 7173: de Smith et al. 2007 (28). Red CNV indicates loss relative reference, brown both loss and gain relative reference. Fertility and Sterility 2013 99, 819-826.e3DOI: (10.1016/j.fertnstert.2012.11.016) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 2 CBX2 RNA expression. (A) Schematic representation of the CBX2 gene. (B) Schematic representation of the two mRNA isoforms. Arrows represent RT-PCR primers. The PCR product size is indicated in base pairs (bp). (C) RNA expression results. Arrow points to the 500 bp step on marker. G1, gonadal fibroblast cell line (46,XX GD c.1356G>A); G2, gonadal fibroblast cell line (46,XX GD c.1411C>G, p.471Pro>Ala); G3, gonadal fibroblast cell line (46,XX GD, no CBX2 mutation); E, EBV-transformed B lymphocytes cell line (46,XX healthy control); B, blank; M, geneRuler 1 kb Plus DNA Ladder (Thermo Scientific, Malmö, Sweden). Fertility and Sterility 2013 99, 819-826.e3DOI: (10.1016/j.fertnstert.2012.11.016) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 3 CBX2 amino-acid conservation. Partial alignment of the CBX2 protein. Pro471 and corresponding residues in other species are highlighted in yellow. Blue and green show part of the functionally important Cx2.2 and Pc box, respectively, in human CBX2. Consensus symbols are indicated considering only mammalian (nine top) or all species proteins. An * (asterisk) indicates positions with a fully conserved residue; a : (colon) indicates conservation with residues of strongly similar properties; a . (period) indicates conservation with residues of weakly similar properties. Fertility and Sterility 2013 99, 819-826.e3DOI: (10.1016/j.fertnstert.2012.11.016) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions