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Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182{*}) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.

Цель. Выявление предполагаемых причинно-следственных мутаций в гене CAST, а также проверка связи этих мутаций со структурно-механическими свойствами мяса бычков калмыцкой породы КРС. Материалы и методы. С помощью Уорнера-Брацлера в модификации Максакова проведена оценка структурно-механических свойств мяса. В ходе процесса амплификации установлена разная степень выраженности мутационной аллели в гене CAST. Результаты. По мере увеличения срока созревания мяса все образцы характеризовались изменением показателя сопротивления в процессе резания. Установлено снижение показателя усилия, приложенного в процессе разрезания, на 18 сутки созревания мяса во всех исследуемых группах (в III группе на 71,9%; во II – на 65,9%; в I – 70,3%. При этом отсутствовала разница между II и III группами. К 18-суточному мутационой созреванию дисперсионым образцов мясо показатели всех сотношение генотипов имело влияние минимальные мицелы различия – 4,07% с I группой. Установлено достоверное влияние генотипа на физико-механические показатели нежности мяса при созревании. Заключение. В ходе исследований установлено, наиболее перспективным вариантом генотипа, который можно рассматривать как материал для селекционной работы, является гомозиготное проявление аллеля Т гена CAST, поскольку установлена взаимосвязь наличия полиморфизма с изменениями в структурно-механических свойствах мяса в ходе созревания., Objective. Identification of the alleged cause-effect mutations in the CAST gene, as well as verification of the relationship of these mutations with the structural and mechanical properties of meat calves of the Kalmyk cattle breed. Materials and methods. Using the Warner-Bratzler modification Maksakova assessment of structural-mechanical properties of meat. During the process of amplification set different degrees of expression of a mutant allele of a gene in a CAST. Results. As the period of meat maturation increased, all samples were characterized by a change in the resistance index during cutting. A decrease in the index of effort applied in the process of cutting, on the 18th day of maturation of meat in all study groups (in group III by 71.9%; in II-by 65.9%; in I – 70.3%. There was no difference between groups II and III. To 18-day mutational maturation of the meat samples of the dispersion characteristics of all the ratio of genotypes had the effect of minimal micelles difference of 4.07% I group. We found a significant influence of genotype on physico-mechanical parameters tenderness of the meat when ripe. Conclusions. In the course of studies it was found that the most promising variant of the genotype, which can be considered as a material for breeding work, is a homozygous manifestation of the allele T of the gene CAST, since the relationship of the presence of polymorphism with changes in the structural and mechanical properties of meat during maturation.

The purpose of the present work was to identify polymorphic allelic variants of ovine calpastatin and callipyge genes in Northeast Bulgarian Merino sheep breed. Blood samples were collected from 32 rams, reared in Agricultural Experimental Station - Targovishte. Genomic DNA was extracted using commercial kit for DNA purification from whole blood. After PCR amplification of CAST gene with specific primer set a fragment of 622 bp was obtained. CLPG gene also was amplified with specific primers and a fragment of 426 bp was obtained. Genotypes were determined by restriction fragment length polymorphism (RFLP) method with MspI restriction enzyme for CAST gene and BsmF1 restriction enzyme for CLPG gene. Calpastatin locus was found to be polymorphic, whereas in callipyge gene it was observed uniformity - the presence of genotype AA only. Genotype frequencies established in CAST gene were 0.47% and 0.53% for MM and MN, respectively, whereas genotype NN was not found.

Objetive. Characterize the genetic polymorphism type SNPs in the calpain (CAPN) and calpastatin (CAST) genes of Colombian Creole hair sheep (OPC). Materials and methods. In 300 individuals belonging to two OPC subpopulations from the departments of Sucre (SC) and Valle del Cauca (VC) were genotyped by PCR-RFLP (MspI) for the CAST locus and by PCR-SSCP for the CAPN locus. The allelic and genotypic frequencies, the observed (Ho) and expected heterozygosity (He), the fixation index (F) and the deviations from the Hardy-Weinberg equilibrium (HWE) were calculated and a molecular analysis of variance to estimate the values of FST, FIS and FIT. Results. In the CAST locus, the MM genotype was the most frequent (83.9±1.1%), followed by the other genotypes (MN: 15.5±1.1, NN: 6.0±0.0%) and the allelic frequency of M (91.7±0.4%) exceeded that of N (8.3±0.4%). For the CAPN locus the heterozygous genotype (48.2±0.7%) was the most frequent, the other genotypes presented frequencies TT:44.7 ± 1.9 and CC:7.0 ± 1.4%. The T allele reached a frequency of 68.8±1.5% (C: 31.3±1.5%). Similar percentages of allelic and genotypic frequencies were found in the subpopulations. The He was less than the Ho in both loci, with negative values of F and deviations of EHW only in CAPN. All the variation found was due to differences within the individuals, with non-significant values (p>0.05) of FST, FIS, and FIT (0.002, -0.093 and -0.095, respectively). Conclusions. The loci studied has high variability, these results can be used for future gene-assisted selection plans to increase OPC productivity., Objetivo. El propósito del presente estudio fue caracterizar el polimorfismo genético tipo SNPs en los genes calpaína (CAPN) y calpastatina (CAST) en el ovino de pelo criollo colombiano (OPC). Materiales y métodos. 300 individuos pertenecientes a dos subpoblaciones de OPC de los departamentos de Sucre (SC) y Valle del Cauca (VC) fueron genotipados por PCR–RFLP (MspI) para el locus CAST y por PCR–SSCP para el locus CAPN. Se calcularon las frecuencias genotípicas, alélicas, la heterocigocidad observada (Ho) y esperada (He), el índice de fijación (F), los desvíos del equilibrio de Hardy-Weinberg (EHW) y un análisis de varianza molecular para estimar los valores de FST, FIS y FIT. Resultados. En el locus CAST, el genotipo MM fue el más frecuente (83.9±1.1%), seguido por los otros genotipos (MN: 15.5±1.1; NN:6.0±0.0%) y la frecuencia alélica de M (91.7±0.4%) superó la del N (8.3±0.4%). Para el locus CAPN el genotipo heterocigoto (48.2±0.7%) fue el más frecuente; los otros genotipos presentaron frecuencias de TT:44.7±1.9 y CC:7.0±1.4%. El alelo T alcanzó una frecuencia de 68.8±1.5% (C:31.3±1.5%). Similares frecuencias alélicas y genotípicas se encontraron en las subpoblaciones. La He fue menor que la Ho en ambos loci, con valores negativos de F y desvios de EHW solo en CAPN. Toda la variación encontrada fue debida a diferencias dentro de los individuos, con valores no significativos (p>0.05) de FST, FIS y FIT (0.002, -0.093 y -0.095, respectivamente). Conclusiones. Los loci estudiados tiene alta variabilidad, estos resultados pueden ser utilizados para futuros planes de selección asistida por genes para aumentar la productividad del OPC.