Prevalence of the prion protein gene E211K variant in U.S. cattle.
Prevalence of the prion protein gene E211K variant in U.S. cattle.
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DOI：
10.1186/1746-6148-4-25
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发表时间：
2008-07-14
影响因子：
2.6
通讯作者：
Laegreid, William W.
中科院分区：
文献类型：
--
作者：
Heaton, Michael P.;Keele, John W.;Harhay, Gregory P.;Richt, Juergen A.;Koohmaraie, Mohammad;Wheeler, Tommy L.;Shackelford, Steven D.;Casas, Eduardo;King, D. Andy;Sonstegard, Tad S.;Van Tassell, Curtis P.;Neibergs, Holly L.;Chase, Chad C., Jr.;Kalbfleisch, Theodore S.;Smith, Timothy P. L.;Clawson, Michael L.;Laegreid, William W.
2006年，在美国阿拉巴马州发现了一例非典型牛海绵状脑病（BSE）病例，后来报道称牛朊蛋白基因（Prnp）编码序列第211位的谷氨酸(E)和赖氨酸(K)密码子多态性。牛E211K突变很重要，因为它类似于人类最常见的致病突变（E200K），后者导致遗传性克雅氏病，这是一种常染色体显性的朊病毒疾病。本报告描述了一种高通量基质相关激光解吸/电离飞行时间质谱分析方法，用于评估Prnp E211K变异，并用于确定美国牛中K211等位基因频率的上限。在5家商业牛肉加工厂（3892具尸体）和42个品种的2170头登记牛的6062头牛中未检测到K211等位基因。1456种纯种牛（42个品种）的Prnp编码序列存在多个邻近多态性，对E211或K211等位基因的定位没有影响。根据这些结果，估计E211K变异流行率的上限极低，在2000头牛中小于1（贝叶斯分析基于均匀先验的后验分布的95%分位数）。目前还没有发现美国牛群或品种携带Prnp K211等位基因。由于没有发现携带K211病毒的人，因此感染非典型疯牛病的新增病例也将非常少。
In 2006, an atypical U.S. case of bovine spongiform encephalopathy (BSE) was discovered in Alabama and later reported to be polymorphic for glutamate (E) and lysine (K) codons at position 211 in the bovine prion protein gene (Prnp) coding sequence. A bovine E211K mutation is important because it is analogous to the most common pathogenic mutation in humans (E200K) which causes hereditary Creutzfeldt – Jakob disease, an autosomal dominant form of prion disease. The present report describes a high-throughput matrix-associated laser desorption/ionization-time-of-flight mass spectrometry assay for scoring the Prnp E211K variant and its use to determine an upper limit for the K211 allele frequency in U.S. cattle. The K211 allele was not detected in 6062 cattle, including those from five commercial beef processing plants (3892 carcasses) and 2170 registered cattle from 42 breeds. Multiple nearby polymorphisms in Prnp coding sequence of 1456 diverse purebred cattle (42 breeds) did not interfere with scoring E211 or K211 alleles. Based on these results, the upper bounds for prevalence of the E211K variant was estimated to be extremely low, less than 1 in 2000 cattle (Bayesian analysis based on 95% quantile of the posterior distribution with a uniform prior). No groups or breeds of U.S. cattle are presently known to harbor the Prnp K211 allele. Because a carrier was not detected, the number of additional atypical BSE cases with K211 will also be vanishingly low.
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DOI：
10.1073/pnas.0305777101
发表时间：
2004-03-02
影响因子：
11.1
作者：
Casalone, C;Zanusso, G;Caramelli, M
通讯作者：
Caramelli, M
影响因子：
2.5
作者：
Heaton, MP;Chitko-McKown, CG;Laegreid, WW
通讯作者：
Laegreid, WW
影响因子：
6.7
作者：
Capobianco, Raffaella;Casalone, Cristina;Tagliavini, Fabrizio
通讯作者：
Tagliavini, Fabrizio
影响因子：
2.5
作者：
Heaton, MP;Grosse, WM;Laegreid, WW
通讯作者：
Laegreid, WW
影响因子：
2.5
作者：
Laegreid, WW;Heaton, MP;Besser, TE
通讯作者：
Besser, TE