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维斯科特-奥尔德里奇综合征蛋白(WASP)基因的小鼠同源基因高度保守,定位于X染色体上的鳞屑(sf)突变附近。

The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.

作者信息

Derry J M, Wiedemann P, Blair P, Wang Y, Kerns J A, Lemahieu V, Godfrey V L, Wilkinson J E, Francke U

机构信息

Howard Hughes Medical Institute, Stanford University Medical Center, California 94305, USA.

出版信息

Genomics. 1995 Sep 20;29(2):471-7. doi: 10.1006/geno.1995.9979.

Abstract

The mouse WASP gene, the homolog of the gene mutated in Wiskott-Aldrich syndrome, has been isolated and sequenced. the predicted amino acid sequence is 86% identical to the human WASP sequence. A distinct feature of the mouse gene is an expanded polymorphic GGA trinucleotide repeat that codes for polyglycine and varies from 15 to 17 triplets in different Mus musculus strains. The genomic structure of the mouse WASP gene is expressed as an approximately 2.4-kb mRNA in thymus and spleen. Chromosomal mapping in an interspecific M. Musculus/M. spretus backcross placed the Wasp locus near the centromere of the mouse X chromosome, inseparable from Gata1, Tcfe3, and scurfy (sf). This localization makes Wasp a candidate for involvement in scurfy, a T cell-mediated fatal lymphoreticular disease of mice that has previously been proposed as a mouse homolog of Wiskott-Aldrich syndrome. Northern analysis of sf tissue samples indicated the presence of WASP mRNA in liver and skin, presumably as a consequence of lymphocytic infiltration, but non abnormalities in the amount or size of mRNA present.

摘要

已分离并测序了小鼠WASP基因,该基因是威斯科特-奥尔德里奇综合征中发生突变的基因的同源物。预测的氨基酸序列与人类WASP序列有86%的同一性。小鼠基因的一个显著特征是一个扩展的多态性GGA三核苷酸重复序列,其编码多聚甘氨酸,在不同的小家鼠品系中从15到17个三联体不等。小鼠WASP基因的基因组结构在胸腺和脾脏中表达为约2.4kb的mRNA。在种间小家鼠/西班牙小鼠回交中的染色体定位将Wasp基因座置于小鼠X染色体着丝粒附近,与Gata1、Tcfe3和鳞屑(sf)基因紧密连锁。这种定位使Wasp成为参与鳞屑病的候选基因,鳞屑病是一种由T细胞介导的小鼠致命性淋巴网状疾病,此前曾被认为是威斯科特-奥尔德里奇综合征的小鼠同源物。对sf组织样本的Northern分析表明,肝脏和皮肤中存在WASP mRNA,推测这是淋巴细胞浸润的结果,但所存在的mRNA的量或大小没有异常。

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