Gennarelli M, Lucarelli M, Zelano G, Pizzuti A, Novelli G, Dallapiccola B
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata, Roma, Italy.
Biochem Biophys Res Commun. 1995 Nov 13;216(2):489-94. doi: 10.1006/bbrc.1995.2649.
We have examined the myotonin protein kinase (MT-PK) gene expression in different human brain areas. Four different spliced forms, comprising exons 13 and 14, were identified and characterized. One form (MYOT-A), lacking the entire exon 13, had not been detected in other studies and it is likely to be a brain-specific transcript. Different brain areas show a specific transcription pattern. These results suggest that MT-PK may have specialized functions in different areas of central nervous system. Alterations of this complex expression pattern could be responsible for the mental status impairment observed in myotonic dystrophy patients.
我们研究了不同人类脑区中肌强直性营养不良蛋白激酶(MT-PK)基因的表达。鉴定并表征了包含外显子13和14的四种不同剪接形式。其中一种形式(MYOT-A)缺少整个外显子13,在其他研究中未被检测到,它可能是一种脑特异性转录本。不同脑区呈现出特定的转录模式。这些结果表明,MT-PK可能在中枢神经系统的不同区域具有特定功能。这种复杂表达模式的改变可能是肌强直性营养不良患者出现精神状态损害的原因。