Orimo A, Inoue S, Ikeda K, Sato M, Kato A, Tominaga N, Suzuki M, Noda T, Watanabe M, Muramatsu M
Department of Biochemistry, Department of Psychiatry, Institute of Laboratory Animal Science, Saitama Medical School, 38 Moro-Hongo, Moroyama-machi, Iruma-gun, Saitama, 350-04, Japan.
Genomics. 1998 Nov 15;54(1):59-69. doi: 10.1006/geno.1998.5541.
Bfp (brain finger protein) is a member of the RING finger protein family, which is highly expressed in the brain. We have previously shown that one copy of the human bfp gene, mapped at 17p11.2, was actually deleted in six of six Smith-Magenis syndrome (SMS) patients. Now we have isolated the mouse bfp cDNA. Using in situ hybridization and immunohistochemistry, the distribution of mouse bfp mRNA and protein was identified especially in neural cells of the cerebral cortex, hippocampus, lateral amygdaloid nucleus, and ventromedial hypothalamus. In primary culture of the whole brain in a neonatal mouse, the Bfp protein was detected in both neuron and glial cells, and its subcellular localization was predominantly in the nucleus, but some amounts were also found in the cytoplasm. The bfp mRNA was also expressed strongly in the marginal zone of brain vesicles, optic stalk, and cartilage primordium, which are part of the critical tissues frequently involved in SMS patients, and in such tissues as nasal epithelium and primordium of follicles in a 13. 5-dpc embryo. Subsequently, its amount in the developing brain further increased during embryogenesis, reaching the highest level in the adult brain. These findings suggest a possibility that Bfp might be involved in the pathogenesis of Smith-Magenis syndrome as a regulator protein related to neural differentiation and function.
脑指蛋白（Bfp）是环状指蛋白家族的成员，在大脑中高度表达。我们之前已经表明，定位于17p11.2的人类bfp基因的一个拷贝在6例史密斯-马吉尼斯综合征（SMS）患者中均被实际删除。现在我们已经分离出小鼠bfp cDNA。通过原位杂交和免疫组织化学，确定了小鼠bfp mRNA和蛋白的分布，特别是在大脑皮层、海马体、杏仁核外侧核和下丘脑腹内侧核的神经细胞中。在新生小鼠全脑的原代培养中，在神经元和神经胶质细胞中均检测到Bfp蛋白，其亚细胞定位主要在细胞核中，但在细胞质中也发现了一些。bfp mRNA在脑泡边缘区、视柄和软骨原基中也强烈表达，这些是SMS患者经常涉及的关键组织的一部分，并且在13.5天胚龄胚胎的鼻上皮和卵泡原基等组织中也有表达。随后，其在发育中的大脑中的含量在胚胎发生过程中进一步增加，在成年大脑中达到最高水平。这些发现提示Bfp作为一种与神经分化和功能相关的调节蛋白可能参与史密斯-马吉尼斯综合征的发病机制。
