A defect of Rag1 and Rag2 Genes Induce Omenn Syndrome
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- 2009.09.08
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- 2006.03
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석사과정 때 과제로 냈던 리뷰 논문 레포트 입니다.
전문 영어 입니다.
목차
1. The V(D)J recombination Process
2. Rag1 and Rag2: Function and structure
3. Omenn syndrome: Rag defect in humans
4. Diagnosis and Treatment
Reference
본문내용
Summary: The varible regions of B- and T-cell antigen receptors are encoded in multiple germline DNA segment-V(variable), D(diversity) and J(joining)- which are spliced together during lymphocyte development. The joining of these segment is V(D)J recombination. This process is occurred by the expression of either Rag1 or Rag2 protein. In human and in animal models, the mutation of these proteins extracts severe combined immune deficiency and leads to a block of B-cell and T-cell maturation. Deficient of Rag1 and/or Rag2 gene cause T-B-SCID and Omenn syndrome(OS). Through many experiments, there are many direction in Rag1 and Rag2 genes associated with OS. There is also increasing evidence that environmental factors play an important role and can lead to a different phenotypic expression of a given genotype. However, It is still lacking that a better understanding of the mechanisms by which the molecular defect impact on the cellular phenotype of OS.
참고 자료
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