鉴定了家族多位的删除突变和三个新基因
G Joslyn1, M Carlson, A Thliveris
1Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84132.
Cell
|August 9, 1991
概括
研究人员在家族性腺多样性大肠杆菌 (APC) 患者的删除DNA区域内发现了新型基因SRP19和DP1. 这些发现有助于更好地了解APC的遗传基础,APC是一种导致结肠多的疾病.
科学领域:
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 大肠杆菌家族性腺瘤多样性 (APC) 是一种遗传性疾病,其特点是结肠中出现多种腺瘤多样体.
- 基因突变,特别是APC基因,与APC有很强的关联,但某些患者的确切基因变化仍然不清楚.
- 了解APC的遗传环境对于开发有针对性的诊断和治疗至关重要.
研究的目的:
- 从被诊断为家族性腺多样性大肠杆菌 (APC) 的患者的DNA中特征小,嵌套的缺失.
- 在这些被删除区域内识别和定位候选基因.
- 为了研究这些基因与APC病变发生过程中已知的MCC基因之间的关系.
主要方法:
- 对来自两名患有家族性腺多样性大肠杆菌 (APC) 的非相关患者的样本进行了DNA分析.
- 在100-260 kb范围内的嵌套删除被确定和描述.
- 删除区域内的候选基因通过序列分析和比较来确定.
主要成果:
- 在被删除的DNA区域内,发现了三种新的候选基因.
- 一个已识别的基因显示了SRP19的序列相同性,编码了核糖体信号识别粒子的一个组成部分.
- 描述了第二个基因,暂时命名为DP1 (在多重组1中被删除),以及第三个重叠的基因DP2.5,并确定了它们的转录取向相对于已知的基因.
结论:
- 这项研究成功地在与家族性腺多样性大肠杆菌 (APC) 相关的删除区域内识别和表征了新型基因SRP19和DP1/DP2.5.
- 这些发现有助于更全面地了解APC的遗传基础.
- 需要对SRP19和DP1/DP2.5在APC病变发生中的作用进行进一步的研究.
相关概念视频
Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
Gene Duplication and Divergence
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Mutations in Microorganisms
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Point and Frameshift Mutations
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Modern Molecular Taxonomy
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...


