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Calpastatin Gene (CAST) Is Not Associated with Late Onset Sporadic Parkinson’s Disease in the Han Chinese Population  [PDF]
Lan Zhang, Hui Ding, Dan-Hui Wang, Yan-Li Zhang, Andrius Baskys, Piu Chan, Yu Zhong, Yan-Ning Cai
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0070935
Abstract: Recent studies point to an association between the late-onset sporadic Parkinson’s disease (PD) and single nucleotide polymorphisms (SNPs) rs1559085 and rs27852 in Ca2+-dependent protease calpain inhibitor calpastatin (CAST) gene. This finding is of interest since loss of CAST activity could result in over activated calpain, potentially leading to Ca2+ dysregulation and loss of substantia nigra neurons in PD. We explored the association between CAST SNPs and late-onset sporadic PD in the Han Chinese population. The study included 615 evaluable patients (363 male, 252 female) with PD and 636 neurologically healthy controls (380 male, 256 female) matched for age, gender, ethnicity, and area of residence. PD cases were identified from the PD cohort of the Chinese National Consortium on Neurodegenerative Diseases (www.chinapd.cn). A total of 24 tag-SNPs were genotyped capturing 95% of the genetic variation across the CAST gene. There was no association found between any of the polymorphisms and PD in all models tested (co-dominant, dominant-effect and recessive-effect). Similarly, none of the common haplotypes was associated with a risk for PD. Our data do not support a significant association between the CAST gene polymorphisms and late onset sporadic PD in the Han Chinese population.
Identification and Association of the Single Nucleotide Polymorphisms in Calpastatin (CAST) Gene with Carcass Traits in Chicken
Yao-Dong Hu,Zeng-Rong Zhang,Qing Zhu
Journal of Animal and Veterinary Advances , 2012, DOI: 10.3923/javaa.2011.2968.2974
Abstract: Calpastatin (CAST) is a naturally occurring protein that inhibits normal tenderization of meat as it ages postmortem. The aim of this study was to investigate the effect of CAST gene polymorphisms on chicken carcass traits. The researchers screened CAST Single Nucleotide Polymorphisms (SNP) in 359 meat type quality chickens from 5 commercial pure lines (S01, S02, S03, S05 and D99; developed from Chinese local breeds), 3 crossbreeds (S01xS05, S01xS10 and S01xD99) and 4 native breeds from Guangdong (Fengkai Xinghua chicken, Huiyang Huxu chicken, Qingyuan Ma chicken) and Guangxi province (Xiayan chicken) in China. Three SNPs (36127T>C, 37752A>T and 37868G>A) were detected by Single Strand Conformation Polymorphism (SSCP) method and DNA sequencing. The linkage disequilibrium analyze found that only 37868G>A SNP in Hardy-Weinberg equilibrium yet one SNP can not compose haplotype, therefore these three SNPs should be analyzed separately rather than as haplotypes. Association analysis showed that the 37752A>T genotypes were significantly associated with Body Weight (BW), Carcass Weight (CW), Breast Muscle Weight (BMW) and Leg Muscle Weight (LMW). The results suggest that CAST SNP is significantly associated with carcass trait in the twelve studied populations and could be useful in selection for changing meat quality in chicken. Further investigations on more chicken populations with larger sample size are needed to confirm this conclusion.
Genetic Polymorphisms of the Coding Region (Exon 6) of Calpastatin in Indonesian Sheep  [cached]
M. I. A. Dagong,C. Sumantri,R. R. Noor,R. Herman
Media Peternakan , 2011,
Abstract: Calpastatin (CAST) is an indigenous inhibitor of calpain that involved in regulation of protein turn over and growth. The objective of this research was to identify genetic polymorphisms in the entire exon 6 of calpastatin gene in Indonesian local sheep. A PCR-SSCP method was carried out to identify genetic variation of CAST gene. In total 258 heads of local sheep from 8 populations were investigated, three groups of samples were Thin Tail Sheep (TTS) from Sukabumi, Jonggol, and Kissar. The rest samples were Priangan sheep (PS) from Margawati (Garut meat type) and Wanaraja (Garut fighting type) and Fat Tail Sheep (FTS) from Donggala, Sumbawa, and Rote islands. SSCP analysis revealed that three different SSCP patterns corresponded to three different alleles in the CAST locus (CAST-1, 2, and 3 allele) with five different genotypes. Genetic variation between local sheep populations were calculated based on genotypic and allelic frequencies. Most populations studied were polymorphic, with genotype frequencies of CAST-11, CAST-12, CAST-22, CAST-32, and CAST-33 were 0.286, 0.395, 0.263, 0.046, and 0.007 respectively. CAST-1 and 2 alleles were most commonly found in all populations with total frequency was 0.970, while CAST-3 was a rare allele 0.030 and only found in TTS population. Variation in the CAST gene could be used for the next research as genetic diversity study or to find any association between CAST polymorphism with birth weight, growth trait and carcass quality in Indonesian local sheep.
Association of Polymorphisms Calpastatin Gene with Body Weight of Local Sheep in Jonggol, Indonesia  [cached]
Sutikno,M. Yamin,C.Sumantri
Media Peternakan , 2011,
Abstract: Calpastatin (CAST) gene is located on the fifth chromosome of sheep and plays important roles in formation of muscles and meat tenderness after slaughtering. Association of genetic polymorphism in the CAST gene locus MspI and NcoI with body weight was examined in local sheep from Jonggol Animal Science Teaching and Research Unit (JASTRU), Faculty of Animal Science, Bogor Agricultural University. The genotypes for CAST were determined by the PCR-RLFP method. Blood samples were collected from 264 local sheep belonging to JASTRU located in Singosari Village, Bogor District, West Java Province. Extraction of genomic DNA was based on the phenol chloroform method. CAST locus MspI had three genotypes including in MM, MN and NN with frequencies of 0.75, 0.23, and 0.02 respectively. CAST locus NcoI had two genotypes including in MM and MN with frequencies of 0.92, 0.08 respectively. Chi-square test confirmed Hardy-Weinberg equilibrium for the CAST locus MspI and NcoI. There was no significant effects (P>0.05) of CAST locus MspI and NcoI genotypes on body weight of local sheep in JASTRU.
Variation at the Calpain 3 gene is associated with meat tenderness in zebu and composite breeds of cattle
William Barendse, Blair E Harrison, Rowan J Bunch, Merle B Thomas
BMC Genetics , 2008, DOI: 10.1186/1471-2156-9-41
Abstract: We identified single nucleotide polymorphisms (SNP) in the genomic sequence of the CAPN3 gene and tested three of these in a sample of 2189 cattle. Of the three SNP genotyped, the CAPN3:c.1538+225G>T had the largest significant additive effect, with an allele substitution effect in the Brahman of α = -0.144 kg, SE = 0.060, P = 0.016, and the polymorphism explained 1.7% of the residual phenotypic variance in that sample of the breed. Significant haplotype substitution effects were found for all three breeds, the Brahman, the Belmont Red, and the Santa Gertrudis. For the common haplotype, the haplotype substitution effect in the Brahman was α = 0.169 kg, SE = 0.056, P = 0.003. The effect of this gene was compared to Calpastatin in the same sample. The SNP show negligible frequencies in taurine breeds and low to moderate minor allele frequencies in zebu or composite animals.These associations confirm the location of a QTL for meat tenderness in this region of bovine chromosome 10. SNP in or near this gene may be responsible for part of the overall difference between taurine and zebu breeds in meat tenderness, and the greater variability in meat tenderness found in zebu and composite breeds. The evidence provided so far suggests that none of these tested SNP are causative mutations.The status of DNA tests for meat tenderness has been recently discussed [1] and so far there are only two genes identified that have consistent effects on meat tenderness reported in the literature, that for Calpastatin and Calpain 1 [2-5]. There are two polymorphisms in Calpain 1 (CAPN1), one appearing to be more useful in taurine breeds and one more useful in zebu breeds. On the other hand, although several possible causative mutations have been identified in Calpastatin (CAST), variation at this gene appears to affect all breed types.Quantitative trait loci (QTL) for meat tenderness were located to bovine chromosome 10 in a Charolais × Brahman experimental population [1]. The authors sugge
Polymorphism of calpastatin gene in Arabic sheep using PCR- RFLP
M Mohammadi, MTB Nasiri, K Alami-Saeid, J Fayazi, M Mamoee, AS Sadr
African Journal of Biotechnology , 2008,
Abstract: Calpastatin has been known as candidate gene in muscle growth efficiency and meat quality. This gene has been located to chromosome 5 of sheep. In order to evaluate the calpastatin gene polymorphism, random blood sample were collected from 111 Arabic ram sheep from different regions. The DNA extraction was based on Boom et al. (1989) method. Exon and entron I from L domain of the ovine calpastatin gene was amplified to produce a 622 bp fragment. The PCR products were electrophoresed on 1.2% agarose gel and stained by etidium bromide. Then, they were digested with restriction enzyme MspI and then electrophoresed on 2.5% agarose gel with ethidium bromide and revealed two alleles, allele A and allele B. Data were analysed using PopGene32 package. In this population, AA, AB, BB genotype have been identified with the 70.27, 28.82, 0.9% frequencies. A and B allele’s frequencies were 0.85, 0.15, respectively. The population was found to follow Hardy-Weinberg equilibrium.
Cloning and Polymorphisms of Yak Lactate Dehydrogenase b Gene  [PDF]
Guosheng Wang,Xingbo Zhao,Juming Zhong,Meng Cao,Qinghua He,Zhengxin Liu,Yaqiu Lin,Yaou Xu,Yucai Zheng
International Journal of Molecular Sciences , 2013, DOI: 10.3390/ijms140611994
Abstract: The main objective of this work was to study the unique polymorphisms of the lactate dehydrogenase-1 (LDH1) gene in yak ( Bos grunniens). Native polyacrylamide gel electrophoresis revealed three phenotypes of LDH1 (a tetramer of H subunit) in yak heart and longissimus muscle extracts. The corresponding gene, ldhb, encoding H subunits of three LDH1 phenotypes was obtained by RT-PCR. A total of six nucleotide differences were detected in yak ldhb compared with that of cattle, of which five mutations cause amino acid substitutions. Sequence analysis shows that the G896A and C689A, mutations of ldhb gene, result in alterations of differently charged amino acids, and create the three phenotypes (F, M, and S) of yak LDH1. Molecular modeling of the H subunit of LDH indicates that the substituted amino acids are not located within NAD + or substrate binding sites. PCR-RFLP examination of G896A mutation demonstrated that most LDH1-F samples are actually heterozygote at this site. These results help to elucidate the molecular basis and genetic characteristic of the three unique LDH1 phenotypes in yak.
INFLUENCE OF CALPASTATIN (CAST) GENOTYPE ON HYBRID PIGS QUALITY TRAITS
Ivona ?urkin
Poljoprivreda (Osijek) , 2012,
Abstract: The investigation was carried out on 90 (45 gilts and 45 barrows) PIC337xC23 crossbred pigs raised at the “Kozarac” test farm. The pigs were fed ad libitum with three different diets consisting 13.58 MJ/ME and 17.36 % CP up to 30 kg LW; 13.26 MJ/ME and 16.05 % CP from 30 kg to 70 kg LW and 12.95 MJ/ME and 14.06 % CP from 70 kg LW to final slaughter weight. During the fattening period one animal died. At the age of 169 days (approximately 110 kg LW), 183 days (approximately 130 kg LW) and 197 days (approximately 150 kg LW) pigs were slaughtered. Measures of carcass and meat quality traits taken at the slaughter line and in laboratory were as follows: carcass lengths “a” and “b”, ham length and its circumference, muscle and fat thickness according to “Two points” method, LD muscle area and area of belonging fat, pH45 and pH24 in ham and LD muscle, EC45 and EC24 at the same time and in the same places as pH measures, meat colour (CIE L* a* b*), drip loss, cooking loss, instrumental tenderness (WBSF) and total calpain activity. Chemical composition of m. longissimus dorsi was determined by NIR spetrophotometer. Polymorphisms at CAST gene were determined by PCR-RFLP method using HinfI, MspI and RsaI restriction endonuclease. Three genotypes were determined for each of the loci. The genotypes were named AA, AB and BB for CAST/HinfI locus; CC, CD andDD for CAST/MspI locus and EE, EF and FF for CAST/ RsaI locus. Statistical analysis showed that slaughter weight had highly significant influence (p<0.001) on all carcass and meat quality traits of investigated pigs. Increasing of age/slaughter weight had desirable influence on pH24 of ham and LD muscle, CIE L*, CIE a*, drip loss and cooking loss. “Medium” and “Heavy” weight groups had higher WBSF values than “Light” weight group of pigs. Slaughter weight influenced significantly chemical composition of the investigated pigs. Hot carcass weight had highly significant influence (p<0.001) on all carcass traits, as well as pH24 in LD muscle, CIE L*, CIE a* and drip loss. Significant (p<0.05) influence of hot carcass weight was found for EC45 in ham and LD muscle, pH24 in ham, CIE b* and cooking loss. Hot carcass weight also influenced (p<0.1) intramuscular fat content of the investigated pigs. Highly significant influence (p<0.001) on all carcass traits was found for CAST/HinfI locus where AB genotype had the longest carcasses (“a” and “b” lengths), longest ham, biggest ham circumference, largest LD muscle area and muscle thickness as well as the thinnest back fat. Highly significant (p<0.001) influence of this locus o
Polymorphisms of the CAST gene in the Meishan and five other pig populations in China
Q S Wang, Y C Pan, L B Sun
South African Journal of Animal Science , 2007,
Abstract: The aim of the study was to characterize the polymorphism of the Calpastatin (CAST) gene identified with three restriction enzymes (TaqI, HinfI, MspI) in Meishan and five other pig populations, and to provide information on their potential in marker-assisted selection and conservation. Meishan pigs appeared to be monomorphic at loci CAST/HinfI and CAST/MspI. A high frequency of the favoured genotype, FF, in terms of meat quality was detected in Meishan pigs, a breed well known for high quality meat. However, the frequency of the genotype, FF, was very low in Sutai pigs, a breed developed from a Duroc (50%) × Meishan (50%) cross. This is probably partially due to the fact that genetic improvement in this breed was achieved through the use of traditional quantitative genetics. It is suggested that traditional selection techniques combined with the use of the polymorphisms discovered have an important potential to improve overall meat quality.
Polymorphisms of calpastatin gene in sheep Polimorfizm genu kalpastatyny owiec  [PDF]
Magdalena Szkudlarek-Kowalczyk,Ewa WI?NIEWSKA,S?AWOMIR MROCZKOWSKI
Journal of Central European Agriculture , 2011, DOI: 10.5513/jcea01/12.3.934
Abstract: Calpastatin plays an essential role in the growth of skeletal muscles and post mortem meat tenderness. The objective of this research was to determine polymorphism in the calpastatin gene in a group of 212 sheep (192 ewes and 20 rams) of four breeds: Polish Merino, Berrichon du Cher, Blackheaded Mutton Sheep, and Ile de France. Polymorphism was identified using the PCR -RFLP technique in accordance with methods by Palmer et al. [9]. The amplified product with the length of 622 bp was digested with restriction enzymes MspI and NcoI. It was found that the M and N alleles were present in CA ST/MspI locus, their frequency being 83.5% and 16.5% respectively. Whereas in CA ST/NcoI locus the M allele occurred with the frequency of 95.8%, and the N allele with the frequency of 4.2%. Kalpastatyna odgrywa wa n rol we wzro cie mi ni szkieletowych i procesie kruszenia mi sa post mortem. Celem badań by o okre lenie polimorfizmu w genie kalpastatyny w grupie 212 owiec (192 maciorki i 20 tryków) czterech ras: merynos polski, berrichon du cher, czarnog ówka i ile de france. Polimorfizm zosta zidentyfikowany metod PCR -RFLP wed ug metodyki Palmera i wsp. [9]. Zamplifikowany produkt o d ugo ci 622 pz poddano trawieniu enzymami restrykcyjnymi MspI i NcoI. Badania wykaza y wyst powanie alleli M i N w locus CA ST/MspI z frekwencj odpowiednio 83,5% i 16,5%. Natomiast w locus CA ST/NcoI allel M wyst pi z cz sto ci 95,8%, a allel N z cz sto ci 4,2%.
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