Supplementary Figure 1: Proliferation of SASH1 fibroblasts and control fibroblasts was in
the same range (mean of 3 controls) (1). Thus the difference in favor of SASH1 fibroblasts in
the wound-healing assay may be due to cell migration and not cell proliferation. SASH1
mRNA expression quantified by RT-qPCR in the fibroblast of the patient was the same as
control (2). Cell survival assays showing normal sensitivity of patient's fibroblasts to ionizing
radiations at 0, 2 and 6 grays (3) and to UVC radiation at 0, 7.5 and 15 J/m2 as compared with
wild type AS405 control fibroblasts (4). Experiments were done in triplicate. Standard
deviations are shown.
Supplementary Table 1: Homozygous regions identified by genome-wide homozygosity
mapping
Proximal recombinant
SNP
Distal recombinant
SNP
chr4:179110516_185338506 6 227
rs2378811
rs17488206
chr6:108312267_110669620 2 357
rs2008860
rs7770648
chr6:131373431_152446057 21 072
rs954211
rs2747653
chr8:3688710_22643323
18 954
rs9650512
rs11991347
chr8:26078324_27796020
1 717
rs4376504
rs2685309
chr8:33410077_35558646
2 148
rs7845367
rs6998842
chr20:16654521_39513502
22 858
rs4239719
rs4142345
Interval (hg19)
Size
(Mb)
1