Intragenic haplotypes at the bovine &amp;lt;i&amp;gt;CSN1S1&amp;lt;/i&amp;gt; locus

Jann, O.; Prinzenberg, E.-M.; Brandt, H.; Williams, J. L.; Ajmone‐Marsan, Paolo; Zaragoza, Pilar; Özbeyaz, Ceyhan; Erhardt, G.

doi:10.5194/aab-45-13-2002

Cited by 13 publications

(21 citation statements)

References 22 publications

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“…However, it can be concluded that despite the close physical linkage of the genes, recombination seems to be relatively frequent within the casein locus. This confirms the observations already described by [19] and [39].…”

Section: Discussionsupporting

confidence: 93%

“…The α s1 -casein gene was typed for a MaeIII polymorphism in the promoter region (CSN1S1prom) by PCR-RFLP according to the protocol of [20] and for a polymorphism in exon 17 (CSN1S1) with PCR-SSCP which differentiates CSN1S1*B from CSN1S1*C [19]. Within the α s2 -casein gene, the nucleotide exchange differentiating CSN1S2*A and D was analysed by ACRS [36].…”

Section: Genotyping Of Casein Polymorphismsmentioning

confidence: 99%

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Geographic distribution of haplotype diversity at the bovine casein locus

et al. 2004

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-The genetic diversity of the casein locus in cattle was studied on the basis of haplotype analysis. Consideration of recently described genetic variants of the casein genes which to date have not been the subject of diversity studies, allowed the identification of new haplotypes. Genotyping of 30 cattle breeds from four continents revealed a geographically associated distribution of haplotypes, mainly defined by frequencies of alleles at CSN1S1 and CSN3. The genetic diversity within taurine breeds in Europe was found to decrease significantly from the south to the north and from the east to the west. Such geographic patterns of cattle genetic variation at the casein locus may be a result of the domestication process of modern cattle as well as geographically differentiated natural or artificial selection. The comparison of African Bos taurus and Bos indicus breeds allowed the identification of several Bos indicus specific haplotypes (CSN1S1*C-CSN2*A 2 -CSN3*A I / CSN3*H) that are not found in pure taurine breeds. The occurrence of such haplotypes in southern European breeds also suggests that an introgression of indicine genes into taurine breeds could have contributed to the distribution of the genetic variation observed.casein / haplotype / Bos taurus / Bos indicus / phylogeny

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Section: Discussionsupporting

confidence: 93%

Section: Genotyping Of Casein Polymorphismsmentioning

confidence: 99%

Geographic distribution of haplotype diversity at the bovine casein locus

et al. 2004

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“…All loci were in Hardy–Weinberg equilibrium. Of the four alleles detected at the CSN1S1 locus, three were present in the Reggiana, with the predominance of CSN1S1*B and a rather high frequency (0.244) of CSN1S1*C compared with Italian Holstein and Italian Brown and more generally to most taurine breeds ( Baker and Manwell 1980; Grosclaude 1988; Jann et al. 2002).…”

Section: Resultsmentioning

confidence: 98%

“…All loci were in Hardy-Weinberg equilibrium. Of the four alleles detected at the CSN1S1 locus, three were present in the Reggiana, with the predominance of CSN1S1*B and a rather high frequency (0.244) of CSN1S1*C compared with Italian Holstein and Italian Brown and more generally to most taurine breeds (Baker and Manwell 1980; Grosclaude 1988;Jann et al 2002). In Nordic cattle Lien et al (1999) identified an allele frequency gradient with lower frequency of CSN1S1*B in native breeds, and loss of CSN1S1*C in highly selected dairy cattle.…”

Section: Resultsmentioning

confidence: 99%

Genetic structure of milk protein polymorphisms and effects on milk production traits in a local dairy cattle

Caroli

Chessa

Bolla

et al. 2004

J Animal Breeding Genetics

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The milk protein genetic structure of the Reggiana dairy local cattle with remarkable milk quality properties was analysed and compared with the structure of Italian Friesian and Italian Brown cattle. A total of 1138 individual milk samples from the three breeds were typed by isoelectrofocusing. Polymorphism was found at the a s1 -casein (CSN1S1), b-casein (CSN2), j-casein (CSN3), and b-lactoglobulin (LGB) loci. High frequencies were observed for some casein alleles in Reggiana (CSN1S1*C, 25%; CSN2*B: 28%) with considerable differences to those observed in a survey carried out 30 years before. A great variation among breeds was observed for casein haplotype frequencies and high linkage disequilibrium was detected at the three polymorphic casein loci CSN1S1-CSN2-CSN3. The prevalent haplotypes were CA 2 B (23%; Reggiana), BA 2 A (48%; Italian Friesian) and BA 2 B (51%; Italian Brown). Higher G ST values between breeds were observed when haplotype frequencies were considered instead of gene frequencies. In the Reggiana cattle, the occurrence of two casein alleles at a rather high frequency (CSN1S1*C, CSN2*B) allowed to estimate the effects of rare casein haplotypes on milk traits. The CA 2 B haplotype was associated with a significantly higher milk protein and fat content and a significantly higher protein per cent was found also for the BA 1 B haplotype. ZusammenfassungDie genetische Struktur von Milchproteinpolymorphismen und ihre Effekte auf Milchproduktionsmerkmale in einer lokalen Milchrinderrasse Die genetische Struktur der Milchproteine der lokalen Rinderrasse Reggiana, die ü ber bemerkenswerte Eigenschaften der Milchqualität verfü gt, wurde analysiert und mit der genetischen Struktur der Rassen Italienische Holsteins und Italienisches Braunvieh verglichen. Es wurden hierbei 1.138 individuelle Milchproben der drei Rassen mit Hilfe der isoelektrischen Fokussierung typisiert. Es konnten Polymorphismen im a S1 -Kasein (CSN1S1), b-Kasein (CSN2), j-Kasein (CSN3) und b-Lactoglobulin (LGB) dargestellt werden. Bei einigen Kaseinallelen wurden bei der Rasse Reggiana hohe Allelfrequenzen beobachtet (CSN1S1*C, 25%; CSN2*B, 28%), mit erheblichen Unterschieden zu den Allelfrequenzen, die bei einer Untersuchung vor 30 Jahren beobachtet wurden. Eine große Variation zwischen den Rassen wurde fü r die Kasein-Haplotyp-Frequenzen beobachtet, und ein hohes Kopplungsungleichgewicht wurde an den drei polymorphen Kaseingenorten CSN1S1-CSN2-CSN3 festgestellt. Die häufigsten Haplotypen waren CA 2 B (23%; Reggiana), BA 2 B (48%; Italienische Holsteins) und BA 2 B (51%; Italienisches Braunvieh). Hö here G ST Werte wurden dann beobachtet, wenn die Haplotypfrequenzen an Stelle von Genfrequenzen verwendet werden. Bei der Rasse Reggiana erlaubte das Auftreten von zwei Kaseinallelen mit hohen Frequenzen (CSN1S1*C, CSN2*B) das Schätzen der Effekte von seltenen Kaseinhaplotypen auf Milchmerkmale. Der CA 2 B-Haplotyp war mit einem signifikant hö heren Protein-und Fettgehalt assoziiert und auch fü r den BA 2 B-Haplotyp konnte ein signifikant hö...

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“…Basic knowledge related to the biology of lactoprotein gene expression is therefore of crucial importance for the advancement of milk production. Identification of important regulatory elements and allele specific polymorphisms within the promoter regions of the bovine casein genes (JANN et al, 2002) would provide an interesting basis for the marker assisted selection in dairy cattle. Accumulation of genomic data during the last two decades enabled more focused research of molecular mechanisms governing casein synthesis in the mammary gland.…”

Section: Introductionmentioning

confidence: 99%

Functional analysis of the bovine beta- and kappa casein gene promoters using homologous mammary gland derived cell line

et al. 2005

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Bovine casein gene cluster belongs to the best studied regions of the bovine genome. However, molecular basis of the regulation of casein gene expression is still of great interest for the advancement of milk production. Identification of crucial regulatory regions governing casein gene expression would provide valuable information for marker assisted selection in dairy cattle. In our study we performed comparative analysis of the bovine beta-and kappa casein gene promoter sequences with the regulatory sequences from some other species. In addition, we used homologous mammary gland derived cell culture and luciferase reporter gene system to confirm the functionality of the proximal beta and kappa casein promoters. The longer kappa casein promoter (2064 bp) showed the highest expression level, followed by the short kappa casein promoter (925 bp) and beta casein promoter (1692 bp). Here we demonstrate the suitability of the bovine mammary gland derived cell line BME UV1 for transient gene expression under transcriptional control of the bovine casein gene promoters and compare functionality of different fragments of bovine beta-and kappa casein gene promoters using homologous in vitro system. Key Words: Bos taurus, bovine β− and κ−casein promoters, BME UV 1 cells, luciferase assay, STAT5 Zusammenfassung Titel der Arbeit: Funktionsanalyse der Rinder β-und κ-Kaseingenpromotoren mit Hilfe der homologen Euterzelllinie Kasein Gen Cluster beim Rind gehören zu den am besten untersuchten Teilen des Rindergenoms. Trotzdem herrscht noch immer groβes Interesse an detaillierten Studien über die molekulare Basis der Regulation der Kaseingen-Expression zur Steigerung der Milchproduktion. Die Entdeckung der Hauptregulationsmechanismen der Kaseingen-Expression wäre von groβer Bedeutung für die markergestützte Selektion der Milchkühe. In unserer Studie haben wir die Promotorsequenzen der Rinder beta-und kappa-Kaseingene im Vergleich zu einigen anderen Säugetierarten untersucht. Die Rinder-Euterzellen BME UV1 und das Luziferase Reportergen System wurden für die Bestätigung der Funktionalität der Rinder β-und κ-Kaseingenpromoters in vitro eingesetzt. Der längere κ-Kaseingen Promoter (2064 bp) hat die stärkste Expression gezeigt, gefolgt von dem kurzen κ-Kaseingen Promoter (925 bp) und dem β-Kaseingen Promoter (1692 bp). Hier können wir demonstrieren, dass die Rindereuterzelllinie BME UV1 für die vorübergehende Genexpression unter der Kontrolle der Rinderkaseingenpromotoren geeignet ist. Die Funktion von verschiedenen Teilen der Rinder β− und κ-Kaseingenpromotern wurde in einem homologen in vitro System verglichen.

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Intragenic haplotypes at the bovine <i>CSN1S1</i> locus

Cited by 13 publications

References 22 publications

Geographic distribution of haplotype diversity at the bovine casein locus

Geographic distribution of haplotype diversity at the bovine casein locus

Genetic structure of milk protein polymorphisms and effects on milk production traits in a local dairy cattle

Functional analysis of the bovine beta- and kappa casein gene promoters using homologous mammary gland derived cell line

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