“…Moreover, real-time RT-PCR mRNA quantification revealed a marked downregulation of CSN1S1 expression in Defective compared with Reference genotype goats (Figure 2). This result is in accordance with previous studies showing that CSN1S1 E and F alleles were related to a lower amount of mammary CSN1S1 mRNA compared with the CSN1S1 A allele, possibly due to a decrease in mRNA stability (Leroux et al, 1992;Perez et al, 1994).…”
Goat's a S1 -casein (CSN1S1) polymorphism has a significant effect on milk protein and lipid composition, which affects the nutritional quality and technological properties of milk. Moreover, this polymorphism has a large impact on the morphology of mammary epithelial cells. To explore the metabolic pathways modulated in relation to this polymorphism, we compared the mammary gene expression profiles of two groups of lactating goats carrying either two reference or two defective alleles, using a bovine oligonucleotide microarray representing 8379 genes. We identified 41 differentially expressed genes between the two genotype groups. In particular, we showed a downregulation of two key lipogenic genes encoding fatty acid synthase and glycerol-3-phosphate acyltransferase in agreement with the low fat concentration associated with CSN1S1 deficiency. In addition, this study highlights changes in the expression level of several genes known to influence membrane fluidity, cell-cell interaction or chromatin organization. Our results open up new fields of investigation on structural modifications associated with CSN1S1 deficiency that could affect mammary gland function.
“…Moreover, real-time RT-PCR mRNA quantification revealed a marked downregulation of CSN1S1 expression in Defective compared with Reference genotype goats (Figure 2). This result is in accordance with previous studies showing that CSN1S1 E and F alleles were related to a lower amount of mammary CSN1S1 mRNA compared with the CSN1S1 A allele, possibly due to a decrease in mRNA stability (Leroux et al, 1992;Perez et al, 1994).…”
Goat's a S1 -casein (CSN1S1) polymorphism has a significant effect on milk protein and lipid composition, which affects the nutritional quality and technological properties of milk. Moreover, this polymorphism has a large impact on the morphology of mammary epithelial cells. To explore the metabolic pathways modulated in relation to this polymorphism, we compared the mammary gene expression profiles of two groups of lactating goats carrying either two reference or two defective alleles, using a bovine oligonucleotide microarray representing 8379 genes. We identified 41 differentially expressed genes between the two genotype groups. In particular, we showed a downregulation of two key lipogenic genes encoding fatty acid synthase and glycerol-3-phosphate acyltransferase in agreement with the low fat concentration associated with CSN1S1 deficiency. In addition, this study highlights changes in the expression level of several genes known to influence membrane fluidity, cell-cell interaction or chromatin organization. Our results open up new fields of investigation on structural modifications associated with CSN1S1 deficiency that could affect mammary gland function.
“…CSN1S1 is characterised by 19 exons ranging in size from 24 (exons 5, 6, 7, 8, 10, 13, 16) to 17.5 kb (Jansa Perez et al, 1994). The goat CSN1S1 locus has been characterised by at least 13 alleles, which have been associated with different levels of protein synthesis (Grosclaude et al, 1987;Martin, 1993).…”
The allelic distributions of the CSN1S1 (as 1 -casein) in the Indian goats are quite different from European goat breeds. Majority of Indian goat breeds and non-descript goats carry A, B, E and F alleles at as 1 -casein locus, as found by analysing both DNA and protein levels. However, A and B alleles, known to be associated with better casein yield, were observed in the highest proportion in all the Indian goat breeds. Gene frequency and breed heterozygosity were computed for the CSN1S1 gene. The gene frequency of allele A in Indian goats varies from 0.68 to 1.00 and allele B varies from 0.098 to 0.23. Allele F was observed in Beetal, Marwari, Chegu and non-descript goats of MP (Local MP) in less than 1% of population. The expected heterozygosity (He) varied from 0.141 to 0.506 over the population. The Beetal breed showed the highest gene diversity (0.506) followed by Jamunapari (0.395), Chegu (0.383) and Jakhrana (0.381) breeds. Therefore, the variability at CSN1S1 locus can be utilised for conservation as well as for genetic improvement of Indian goat breeds for increasing both the quality and quantity of milk production.
“…This hypothesis was proved by Bleck and Bremel (1993b) for the promoter of bovine alpha-lactalbumin, by Lum et al (1997) for the beta-lactoglobulin promoter as well as for human cytochrome P450IIE1 (Hayashi et al, 1991), human haptoglobin 2-1 gene (Grant and Maeda, 1993) or lately, human tumour necrosis factor (Knight et al, 1999). The potential importance of variation within regulatory sequences of bovine CSN1S1 gene was proved by Perez et al (1994) who found the insertion of the LINE sequence in the 3' untranslated region of this gene. They suggest that this insert reduces the transcriptional rate and/or decreases the stability of mRNA of CSN1S1.…”
Section: Discussionmentioning
confidence: 99%
“…Six protein variants located within the coding part of bovine CSN1S1 gene are known (Fox, 1992;Erhardt, 1993). Apart from the cod-ing sequence, two other polymorphisms within regulatory regions of CSN1S1 gene have been reported: in the CSN1S1 promoter (Koczan et al, 1993) and 3' untranslated region (Perez et al, 1994).…”
The detection of a new SSCP polymorphism within the promoter of the bovine alpha SI casein gene is described. The fragment of alpha SI casein gene promoter (218 bp) was PCR-amplified and then subjected to electrophoresis allowing the detection of SSCP polymorphism. Among 118 randomly chosen cows (Black-and-White) and 124 bulls (Black-and-White), we found two SSCP patterns, labelled R2 and R3, with respective frequencies of 0.05 and 0.95. The detected SSCP polymorphism may be useful in searching for associations between different SSCP patterns and gene expression, especially milk protein percentage and protein yield.
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