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从 12 个法国牛种的 100 多万头公牛和母牛的基因型估计的牛奶蛋白变异体和单倍型频率。

Frequencies of milk protein variants and haplotypes estimated from genotypes of more than 1 million bulls and cows of 12 French cattle breeds.

机构信息

Université Paris Saclay, INRAE, AgroParisTech, GABI, 78350 Jouy-en-Josas, France.

Université Paris Saclay, INRAE, AgroParisTech, GABI, 78350 Jouy-en-Josas, France; Allice, 75012 Paris, France.

出版信息

J Dairy Sci. 2020 Oct;103(10):9124-9141. doi: 10.3168/jds.2020-18492. Epub 2020 Aug 6.

Abstract

Due to their major effects on milk composition and cheese-making properties and their putative effects on human health, there is a great deal of interest in bovine milk protein variants. The objectives of this study were to estimate frequencies of milk protein variants and haplotypes in 12 cattle breeds as well as their trends over time to assess the effect of selection on milk traits. Milk protein variants and haplotypes were identified from SNP genotype data from more than 1 million animals from 12 dairy, beef, or dual-purpose cattle breeds that had been genotyped for genomic selection. We examined a total of 15 loci in the genes that encode β-lactoglobulin (β-LG) and 3 caseins (α-CN, β-CN, and κ-CN); genotypes were directly called from customized SNP chips (50.6%) or imputed (49.4%). Variants A and B of β-LG were frequent in the 12 breeds. For the caseins, we found 3 variants for α-CN (B, C, and D), 6 for β-CN (A1, A2, A3, B, C, and I), and 5 for κ-CN (A, B, C, D, and E). For α-CN, the B variant was the most frequent in all breeds except Jersey. For β-CN, the A2 variant was the most abundant in all breeds except Tarentaise, although in Normande animals, the I variant (30.9%) was almost as common as A2 (39.7%). The C variant was very rare except in the Tarentaise sample (4.8%). The most frequent variant for κ-CN was A in 5 breeds (including Holstein), and B in the 7 other breeds. The B variant was present at a particularly high frequency in Jersey (82.6%) and Normande (85.5%) animals. The C and E variants of κ-CN appeared to be particularly frequent in the Tarentaise (12.7%) and Holstein (9%) breeds, respectively. We found 20 haplotype combinations of α-β-κ CN that were present at a frequency >0.1% in at least one breed; however, only 6 to 9 haplotypes were found in any given breed, demonstrating a strong degree of linkage disequilibrium. The most frequent haplotypes were B-A1-A, B-A2-A, B-A2-B, B-I-B, C-A2-A, and C-A2-B. Some alleles were predominantly found in only one haplotype, such as the E and C variants of κ-CN and the I variant of β-CN, which were mainly found in the B-A1-E, B-A1-C, and B-I-B haplotypes, respectively. We observed changes in the frequency of certain variants over time in several breeds, such as an increase in the frequency of variants A of β-LG, I of β-CN, and B of κ-CN. With these results, we update and complete frequency data that were first estimated 30 to 50 yr ago, and, for the first time in these breeds, we assess the effect of selection on milk protein variants.

摘要

由于牛乳铁蛋白变体对牛奶成分和奶酪制作特性以及对人类健康的潜在影响,人们对其产生了浓厚的兴趣。本研究的目的是估计 12 个奶牛品种中牛奶蛋白变体和单倍型的频率,以及随时间的变化趋势,以评估选择对牛奶特性的影响。从 12 个奶牛、肉牛或乳肉兼用牛品种的超过 100 万头动物的 SNP 基因型数据中鉴定了牛奶蛋白变体和单倍型;这些品种都已进行了基因组选择的基因分型。我们总共检查了编码β-乳球蛋白(β-LG)和 3 种酪蛋白(α-CN、β-CN 和 κ-CN)的 15 个基因座;基因型直接从定制的 SNP 芯片中直接调用(50.6%)或进行了推断(49.4%)。12 个品种中β-LG 的变体 A 和 B 很常见。对于酪蛋白,我们发现α-CN 有 3 种变体(B、C 和 D),β-CN 有 6 种变体(A1、A2、A3、B、C 和 I),κ-CN 有 5 种变体(A、B、C、D 和 E)。在所有品种中,除了泽西牛外,B 变体是最常见的。对于β-CN,除了塔朗泰斯牛外,A2 变体在所有品种中都很丰富,尽管在诺曼底牛中,I 变体(30.9%)与 A2(39.7%)几乎一样常见。除了塔朗泰斯牛样本(4.8%)外,C 变体非常罕见。κ-CN 最常见的变体是 5 个品种中的 A(包括荷斯坦牛),7 个其他品种中的 B。B 变体在泽西牛(82.6%)和诺曼底牛(85.5%)中存在的频率特别高。κ-CN 的 C 和 E 变体在塔朗泰斯牛(12.7%)和荷斯坦牛(9%)中似乎特别常见。我们发现了 20 种α-β-κ CN 的单倍型组合,在至少一个品种中的频率>0.1%;然而,在任何给定的品种中只发现了 6 到 9 种单倍型,这表明存在强烈的连锁不平衡。最常见的单倍型是 B-A1-A、B-A2-A、B-A2-B、B-I-B、C-A2-A 和 C-A2-B。一些等位基因主要存在于一个单倍型中,例如κ-CN 的 E 和 C 变体以及β-CN 的 I 变体,它们主要存在于 B-A1-E、B-A1-C 和 B-I-B 单倍型中。我们观察到在几个品种中,某些变体的频率随时间发生了变化,例如β-LG 的 A 变体、β-CN 的 I 变体和 κ-CN 的 B 变体的频率增加。有了这些结果,我们更新并完善了最初在 30 到 50 年前估计的频率数据,并且首次对这些品种进行了评估,以确定选择对牛奶蛋白变体的影响。

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