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

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    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

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    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

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    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
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