Opal Puneet, Garcia Jesus J, McCall Alanna E, Xu Bisong, Weeber Edwin J, Sweatt J David, Orr Harry T, Zoghbi Huda Y
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Mol Cell Biol. 2004 Apr;24(8):3140-9. doi: 10.1128/MCB.24.8.3140-3149.2004.
The leucine-rich acidic nuclear protein (LANP) belongs to a family of evolutionarily conserved proteins that are characterized by an amino-terminal domain rich in leucine residues followed by a carboxy-terminal acidic tail. LANP has been implicated in the regulation of a variety of cellular processes including RNA transport, transcription, apoptosis, vesicular trafficking, and intracellular signaling. Abundantly expressed in the developing cerebellum, this protein has also been hypothesized to play a role in cerebellar morphogenesis. LANP has been implicated in disease biology as well, both as a mediator of toxicity in spinocerebellar ataxia type 1 and as a tumor suppressor in cancers of the breast and prostate. To better understand the function of this multifaceted protein, we have generated mice lacking LANP. Surprisingly, these mice are viable and fertile. In addition we could not discern any derangements in any of the major organ systems, including the nervous system, which we have studied in detail. Overall our results point to a functional redundancy of LANP's function, most likely provided by its closely related family members.
富含亮氨酸的酸性核蛋白（LANP）属于一类进化保守蛋白家族，其特征是氨基末端富含亮氨酸残基，随后是羧基末端酸性尾巴。LANP参与多种细胞过程的调控，包括RNA转运、转录、细胞凋亡、囊泡运输和细胞内信号传导。该蛋白在发育中的小脑中大量表达，也被推测在小脑形态发生中起作用。LANP还与疾病生物学有关，既是1型脊髓小脑共济失调中毒性的介质，也是乳腺癌和前列腺癌中的肿瘤抑制因子。为了更好地理解这种多面蛋白的功能，我们培育了缺乏LANP的小鼠。令人惊讶的是，这些小鼠能够存活且可育。此外，我们在包括神经系统在内的任何主要器官系统中都未发现任何紊乱，我们已对神经系统进行了详细研究。总体而言，我们的结果表明LANP功能存在功能冗余，很可能由其密切相关的家族成员提供。
