Identification of genes responsible for hereditary diseases in Japanese beef cattle
Identification of genes responsible for hereditary diseases in Japanese beef cattle
复制标题
日本肉牛遗传性疾病基因的鉴定
DOI：
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发表时间：
2005
期刊：
影响因子：
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通讯作者：
T. Kunieda
中科院分区：
文献类型：
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作者：
T. Kunieda
在家畜育种中，选择经济上所需的性状一直是动物改良最重要的考虑因素，但排除动物生产中的负面因素，如遗传性疾病的致病基因，也是家畜遗传改良的必要条件。据报道，日本肉牛中存在多种遗传性疾病，这些疾病给健康肉牛的繁育和饲养带来了严重问题。本文综述了日本肉牛以下三种遗传性疾病致病基因的鉴定：(i) Chediak-Higashi 综合征； (ii) 肾小管发育不良； (iii) 牛软骨发育不良性侏儒症。 Chediak-Higashi 综合征是日本黑牛中报道的一种遗传性出血性疾病。为了确定这种疾病的病因，我们对牛的 LYST 基因进行了克隆和测序，该基因被发现与人类 Chediak-Higashi 综合征有关，并发现 2015 年氨基酸残基处的组氨酸被精氨酸取代是牛疾病的致病突变。肾小管发育不良是日本黑牛的一种遗传性疾病，表现为肾功能衰竭和生长迟缓。我们通过连锁分析将这种疾病的基因座定位到牛 1 号染色体的 4 cM 区域，并发现该区域存在大的缺失。删除的区域包含编码肾上皮细胞紧密连接蛋白的 PCLN1 基因，我们得出结论，PCLN1 基因的删除是导致该疾病的原因。牛软骨发育不良性侏儒症是日本褐牛的一种遗传性疾病，表现为四肢短小和关节异常。我们通过连锁分析将该疾病的基因座定位到牛 6 号染色体的区域。通过构建覆盖该区域的 YAC 和 BAC 重叠群并进行序列分析，我们鉴定了一个新基因 (LIMBIN)，该基因在该区域的骨形成中发挥重要作用，并发现了导致该疾病的两个突变。这些突变的鉴定为这三种疾病的基于DNA的诊断系统提供了基础，诊断系统开发出来后，这些遗传性疾病的发病率急剧下降。
In the breeding of domestic animals, selection of economically desired traits has been the most important consideration for the improvement of animals, but excluding negative factors in animal production, such as causative genes for hereditary diseases, is also required for the genetic improvement of domestic animals. The incidence of various hereditary diseases has been reported in Japanese beef cattle and these diseases have caused serious problems in the breeding and raising of healthy beef cattle. This article reviews the identification of causative genes for the following three hereditary diseases in Japanese beef cattle: (i) Chediak–Higashi syndrome; (ii) renal tubular dysplasia; and (iii) bovine chondrodysplastic dwarfism. Chediak–Higashi syndrome is a hereditary bleeding disorder reported in Japanese black cattle. To identify the cause of this disease, we cloned and sequenced the bovine LYST gene, which has been found to be involved in Chediak–Higashi syndrome in humans, and found that an amino acid substitution of histidine to arginine at amino acid residue 2015 is the causative mutation in the cattle disease. Renal tubular dysplasia is a hereditary disease of Japanese black cattle showing renal failure and growth retardation. We mapped the locus for this disease to the 4 cM region of bovine chromosome 1 by linkage analysis and found a large deletion in this region. The deleted region contained the PCLN1 gene encoding a tight-junction protein of renal epithelial cells, and we concluded that deletion of the PCLN1 gene is responsible for the disease. Bovine chondrodysplastic dwarfism is a hereditary disease of Japanese brown cattle, displayed by short limbs and joint abnormalities. We mapped the locus for the disease to a region of bovine chromosome 6 by linkage analysis. By constructing YAC and BAC contigs covering this region and sequence analysis, we identified a novel gene (LIMBIN), which plays an essential role in bone formation in this region, and found two mutations responsible for the disease. The identification of these mutations provided the basis for DNA-based diagnostic systems for these three diseases, and after development of the diagnosis systems, the incidences of these hereditary diseases have dramatically decreased.
影响因子：
56.9
作者：
Simon, DB;Lu, Y;Lifton, RP
通讯作者：
Lifton, RP