A common KIR2DS4 deletion variant in the human that predicts a soluble KIR molecule analogous to the KIR1D molecule observed in the rhesus monkey
A common KIR2DS4 deletion variant in the human that predicts a soluble KIR molecule analogous to the KIR1D molecule observed in the rhesus monkey
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DOI：
10.1034/j.1399-0039.2002.600307.x
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发表时间：
2002-09-01
期刊：
影响因子：
--
通讯作者：
Curran, MD
中科院分区：
文献类型：
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作者：
Maxwell, LD;Wallace, A;Curran, MD
先前通过KIR PCR-SSOP分型研究鉴定的KIR 2DS 4缺失变体等位基因，通过cDNA克隆和测序以及使用缺失特异性探针确定的其在人群中的患病率，与正常KIR 2DS 4等位基因一起进行表征。在筛选的90个个体中的72个个体中发现了KIR 2DS 4缺失变体，其与正常KIR 2DS 4序列的不同之处在于外显子5中的单个22 bp缺失。缺失导致移码，预测具有显著改变的D2结构域的截短的KIR 2DS 4蛋白，其将由于跨膜/胞质结构域的丢失而分泌。与最近在恒河猴中的一项研究相似，该研究突出了与缺失变体相同的开放阅读框架的访问，也预测了可溶性KIR分子。
A KIR2DS4 deletion variant allele, previously identified through KIR PCR-SSOP typing studies, was characterized, alongside a normal KIR2DS4 allele, by cDNA cloning and sequencing and its prevalence in the population determined using a deletion specific probe. The KIR2DS4 deletion variant was found in 72 of the 90 individuals screened and differed from the normal KIR2DS4 sequence by a single 22 bp deletion in exon 5. The deletion causes a frameshift predicting a truncated KIR2DS4 protein with a significantly altered D2 domain that would be secreted due to the loss of the transmembrane/cytoplasmic domains. Parallels with a recent study in the rhesus monkey highlighting access to the same open reading frame as the deletion variant, also predicting a soluble KIR molecule, are drawn.