Roux A F, Nguyen V T, Squire J A, Cox D W
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Hum Mol Genet. 1994 Oct;3(10):1819-22. doi: 10.1093/hmg/3.10.1819.
Heat shock proteins (HSP) belong to a family of highly homologous proteins that are encoded by several genes and function as protein chaperones. A number of HSP genes have been described in the major histocompatibility complex (MHC) on chromosome 6. We have cloned and mapped one chromosome 14 HSP gene (HSPA2) using a genomic probe (pH2.3) derived from one of the HSP genes present in the MHC, which was previously shown to also detect sequences on chromosome 14. Screening of a chromosome 14-specific cosmid library yielded one relevant clone that contains an HSP-like sequence, showing a high degree of identity with the HSP genes from the MHC and with HSP70.2 (Hspa2) in the mouse. This new HSP gene is expressed abundantly in muscle, heart, oesophagus and brain, and to a lesser extent in testis. Its localization to 14q22 was established by using a somatic cell hybrid panel and FISH analysis. A pentanucleotide repeat motif, showing seven alleles, was also identified in the cosmid clone.
热休克蛋白(HSP)属于一类高度同源的蛋白质家族,由多个基因编码,起蛋白质伴侣的作用。在6号染色体上的主要组织相容性复合体(MHC)中已描述了许多HSP基因。我们使用源自MHC中存在的一个HSP基因的基因组探针(pH2.3)克隆并定位了一个14号染色体HSP基因(HSPA2),该探针先前已证明也能检测14号染色体上的序列。筛选14号染色体特异性黏粒文库得到一个相关克隆,其包含一个HSP样序列,与来自MHC的HSP基因以及小鼠中的HSP70.2(Hspa2)具有高度同源性。这个新的HSP基因在肌肉、心脏、食管和脑中大量表达,在睾丸中表达较少。通过使用体细胞杂交板和荧光原位杂交(FISH)分析确定了其定位于14q22。在黏粒克隆中还鉴定出一个具有七个等位基因的五核苷酸重复基序。