4 research outputs found
Additional file 4: Table S8. of A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs
Co-segregated variants detected in re-sequencing and mutation screening. Table S9. Differential expressed genes between MITF  R/r and MITF  r/r stria vascularis (SVs). Table S10. Expression levels of melanocyte marker genes in porcine SVs. Table S11. Primer pairs used for screening the MITF gene, for qPCR and for mice genotyping. Table S12. Expression levels of SOX family members in porcine SVs. Table S13. Distribution of hearing loss phenotype and genotype in a large Rongchang pig population. (DOCX 55 kb
Additional file 3: Table S5. of A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs
SNPs detected by re-sequencing in the associated region of Rongchang pigs. Table S6. SNPs co-segregated with hearing loss phenotype in three MITF  r/r pigs and three MITF  R/R Rongchang pigs. Table S7. SNPs uniquely detected in Rongchang pigs, and homozygous in MITF  r/r . (XLSX 465 kb
Additional file 1: Figure S1. of A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs
Eye morphology defects of albino pigs. Figure S2. Three family pedigrees of mapping population. Figure S3. Images showing presence of intermediate cells in the stria vascularis of albino pigs at the embryo stage. Figure S4. Results of EMSA using probe R1 and r1. Figure S5. Genotyping of Rongchang pigs for causative mutation. Figure S6. The human orthologous of the causative mutant region found in MITF  r/r pigs are formerly lack of regulatory activity. (DOCX 6667 kb
Additional file 2: Table S1. of A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs
The goodness of fit test for Mendelian ratios of the hearing loss. Table S2. Re-annotation of porcine MITF gene in Genome of Tibet pig. Table S3. Co-segregated mutations detected in mutation screening. Table S4. Summary and mapping statistics of the pig genome re-sequencing data. (DOCX 58 kb