Chambers D M, Peters J, Abbott C M
Human Genetics Unit, Department of Medicine, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4463-8. doi: 10.1073/pnas.95.8.4463.
We have identified the mutation responsible for the autosomal recessive wasted (wst) mutation of the mouse. Wasted mice are characterized by wasting and neurological and immunological abnormalities starting at 21 days after birth; they die by 28 days. A deletion of 15.8 kb in wasted mice abolishes expression of a gene called Eef1a2, encoding a protein that is 92% identical at the amino acid level to the translation elongation factor EF1alpha (locus Eef1a). We have found no evidence for the involvement of another gene in this deletion. Expression of Eef1a2 is reciprocal with that of Eef1a. Expression of Eef1a2 takes over from Eef1a in heart and muscle at precisely the time at which the wasted phenotype becomes manifest. These data suggest that there are tissue-specific forms of the translation elongation apparatus essential for postnatal survival in the mouse.
我们已经确定了导致小鼠常染色体隐性消瘦（wst）突变的突变基因。消瘦小鼠的特征是出生21天后开始出现消瘦、神经和免疫异常；它们在28天内死亡。消瘦小鼠中一个15.8 kb的缺失消除了名为Eef1a2的基因的表达，该基因编码一种蛋白质，其氨基酸水平与翻译延伸因子EF1alpha（基因座Eef1a）有92%的同一性。我们没有发现该缺失涉及另一个基因的证据。Eef1a2的表达与Eef1a的表达相反。在消瘦表型出现的精确时间，Eef1a2在心脏和肌肉中的表达取代了Eef1a。这些数据表明，存在小鼠出生后生存所必需的翻译延伸装置的组织特异性形式。
