Shwachman Bodian Diamond综合征SBDS的生物信息学研究
Structural Investigations into Shwachman Bodian Diamond Syndrome SBDS using a Bioinformatics Approach
摘要：
导致疾病的错义突变的功能相关性仍然是理解遗传疾病基础的挑战。这对于与疾病相关的蛋白质尤其如此，对于这些蛋白质没有可用的三维结构。一种这样的疾病是Shwachman Diamond综合征SDS OMIM 260400，一种由功能突变丧失引起的多系统疾病。智人Shwachman Bodian钻石综合征基因hSBDS负责SDS。hSBDS在所有组织中表达并编码250个氨基酸的蛋白质SwissProt登录号Q9Y3A5。疾病相关等位基因的序列分析已经在受影响的个体中鉴定出20多种不同的突变。虽然许多这些突变已被描述为由于截短、翻译或表面表位缔合而导致蛋白质功能丧失，但由于SBDS缺乏三维结构，这些突变的结构基础尚未确定。
英文摘要：
The functional correlation of missense mutations which cause disease remains a challenge to understanding the basis of genetic diseases. This is particularly true for proteins related to diseases for which there are no available three dimensional structures. One such disease is Shwachman Diamond syndrome SDS OMIM 260400, a multi system disease arising from loss of functional mutations. The Homo sapiens Shwachman Bodian Diamond Syndrome gene hSBDS is responsible for SDS. hSBDS is expressed in all tissues and encodes a protein of 250 amino acids SwissProt accession code Q9Y3A5. Sequence analysis of disease associated alleles has identified more than 20 different mutations in affected individuals. While a number of these mutations have been described as leading to the loss of protein function due to truncation, translation or surface epitope association, the structural basis for these mutations has yet to be determined due to the lack of a three-dimensional structure for SBDS.
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