Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects
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DOI：
10.1007/s10038-004-0228-2
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发表时间：
2005-01-01
影响因子：
3.5
通讯作者：
Jones, CJ
中科院分区：
文献类型：
--
作者：
Ridley, AJ;Colley, J;Jones, CJ
我们报告的主题与Cockayne综合征A型（CS3 BE）是一个复合杂合子突变CKN 1，基因编码的CSA蛋白（MIM 216400）。CS3 BE显示了一个新的错义突变（A160 V）和一个先前描述的无义突变（E13 X）。虽然存在于CSA蛋白的第二和第三WD-40重复序列之间，但A160在所有具有CKN 1同源物的物种中完全保守。我们还描述了一个突变，在以前未表征的着色性干皮病C组受试者（XP 8 CA）的XPC基因（MIM 278720）。XP 8 CA在密码子547处的2bp TG缺失是纯合的，导致在密码子572处的提前终止。XP 8 CA提取物的免疫印迹证实不存在存在于未受影响的细胞系中的全长XPC蛋白。
We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400). CS3BE displayed a novel missense mutation (A160V) and a previously described nonsense mutation (E13X). Although residing between the second and third WD-40 repeats characteristic of the CSA protein, A] 60 is completely conserved in all species that possess a CKN1 homologue. We also describe a mutation in a previously uncharacterised xeroderma pigmentosum group C Subject (XP8CA) in the XPC gene (MIM 278720). XP8CA was homozygous for a 2 bp TG deletion in codon 547 resulting in premature termination at codon 572. Immunoblotting of XP8CA extracts confirmed the absence of full-length XPC protein that was present in unaffected cell lines.