严重联合免疫缺陷（SCID）小鼠中T细胞受体γ和δ基因连接序列：P核苷酸过度插入。
T cell receptor gamma and delta gene junctional sequences in SCID mice: excessive P nucleotide insertion.
作者信息
Kienker L J, Kuziel W A, Tucker P W
机构信息
Department of Microbiology, University of Texas Southwestern Medical Center, Dallas 75235.
出版信息
J Exp Med. 1991 Oct 1;174(4):769-73. doi: 10.1084/jem.174.4.769.
Abstract
The severe combined immunodeficiency (SCID) mutation has been postulated to affect a V(D)J recombinase activity involved in coding joint formation. Analysis of 38 joints from 34 distinct sequences of normally rearranged T cell receptor (TCR) gamma and delta genes from adult, SCID thymocytes reveals coding joints with an increased number of P nucleotides. One-third of P sequences are greater than or equal to 4 nucleotides in length and P elements of up to 15 bases are observed. This suggests that the SCID defect deregulates P nucleotide addition. Consequently, essential V(D)J recombination intermediates may seldom be generated.
摘要
严重联合免疫缺陷（SCID）突变被推测会影响参与编码连接形成的V（D）J重组酶活性。对来自成年SCID胸腺细胞中正常重排的T细胞受体（TCR）γ和δ基因的34个不同序列的38个连接进行分析，发现编码连接中P核苷酸数量增加。三分之一的P序列长度大于或等于4个核苷酸，并且观察到长达15个碱基的P元件。这表明SCID缺陷会使P核苷酸添加失调。因此，可能很少产生必需的V（D）J重组中间体。
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