RHCE 基因编码鸡血液系统 I

IF 3.6 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Genetics Selection Evolution Pub Date : 2024-06-19 DOI:10.1186/s12711-024-00911-9
Janet E. Fulton, Amy M. McCarron, Ashlee R. Lund, Wioleta Drobik-Czwarno, Abigail Mullen, Anna Wolc, Joanna Szadkowska, Carl J. Schmidt, Robert L. Taylor
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引用次数: 0

摘要

已知的鸡血系统有 13 种,最初是通过红细胞与特异性异抗原的凝集作用来检测的。其中四个系统(A、B、D 和 E)的基因组区域或特定基因已经确定。我们利用多只已知鸡 I 型血液系统血清学特征的鸟类的 DNA、600K 和 54K 单核苷酸多态性(SNP)数据以及低通序列信息,确定了鸡 I 型血液系统的基因身份。负责鸡 I 型血液系统的基因被鉴定为 RHCE,它也是负责高度多态的人类 Rh 血型位点的基因之一,母体/胎儿抗原差异可导致胎儿溶血性贫血和胎儿死亡。我们在鸡体内发现了 17 个独特的 RHCE 单倍型,其中 6 个单倍型与已知的 I 系统血清等位基因相对应。我们还在 RHCE 基因中检测到了超过 6000 bp 的缺失,据预测,这些缺失将删除其最后 7 个外显子。RHCE 是负责鸡 I 型血液系统的基因。这已经是第五种已知致病基因和基因变异体的鸡血系统。现在有了基于 DNA 的快速检测方法,可以更详细地研究 I 型血液系统变异对疾病反应、一般免疫功能和动物生产的影响。
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The RHCE gene encodes the chicken blood system I
There are 13 known chicken blood systems, which were originally detected by agglutination of red blood cells by specific alloantisera. The genomic region or specific gene responsible has been identified for four of these systems (A, B, D and E). We determined the identity of the gene responsible for the chicken blood system I, using DNA from multiple birds with known chicken I blood system serology, 600K and 54K single nucleotide polymorphism (SNP) data, and lowpass sequence information. The gene responsible for the chicken I blood system was identified as RHCE, which is also one of the genes responsible for the highly polymorphic human Rh blood group locus, for which maternal/fetal antigenic differences can result in fetal hemolytic anemia with fetal mortality. We identified 17 unique RHCE haplotypes in the chicken, with six haplotypes corresponding to known I system serological alleles. We also detected deletions in the RHCE gene that encompass more than 6000 bp and that are predicted to remove its last seven exons. RHCE is the gene responsible for the chicken I blood system. This is the fifth chicken blood system for which the responsible gene and gene variants are known. With rapid DNA-based testing now available, the impact of I blood system variation on response against disease, general immune function, and animal production can be investigated in greater detail.
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来源期刊
Genetics Selection Evolution
Genetics Selection Evolution 生物-奶制品与动物科学
CiteScore
6.50
自引率
9.80%
发文量
74
审稿时长
1 months
期刊介绍: Genetics Selection Evolution invites basic, applied and methodological content that will aid the current understanding and the utilization of genetic variability in domestic animal species. Although the focus is on domestic animal species, research on other species is invited if it contributes to the understanding of the use of genetic variability in domestic animals. Genetics Selection Evolution publishes results from all levels of study, from the gene to the quantitative trait, from the individual to the population, the breed or the species. Contributions concerning both the biological approach, from molecular genetics to quantitative genetics, as well as the mathematical approach, from population genetics to statistics, are welcome. Specific areas of interest include but are not limited to: gene and QTL identification, mapping and characterization, analysis of new phenotypes, high-throughput SNP data analysis, functional genomics, cytogenetics, genetic diversity of populations and breeds, genetic evaluation, applied and experimental selection, genomic selection, selection efficiency, and statistical methodology for the genetic analysis of phenotypes with quantitative and mixed inheritance.
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