Diehl H J, Schaich M, Budzinski R M, Stoffel W
Proc Natl Acad Sci U S A. 1986 Dec;83(24):9807-11. doi: 10.1073/pnas.83.24.9807.
The gene encoding human proteolipid protein (PLP) was isolated from a human genomic library by hybridization with labeled DNA of a PLP-specific cDNA clone. The entire PLP gene spans approximately 17 kilobases. Restriction and sequence analysis revealed seven exons and six introns. The entire nucleotide sequences of the exons and of the exon-intron transitions were determined, and the intron lengths were measured. Exon I includes only ATGG of the translated region, the N-terminal methionine codon and G of glycine, the first amino acid of mature PLP. Each hydrophobic trans- and cis-membrane domain of PLP together with its adjacent hydrophilic sequence correlates closely with one exon of the gene except for the C-terminal transmembrane helix that is encoded by two exons. The amino acid sequence of human PLP derived from the nucleic acid sequence is highly conserved. Human and rat PLP are completely homologous, whereas only four amino acid residues are exchanged in bovine PLP sequence derived from protein sequencing and a partial cDNA clone. Homology search on the nucleic acid level among human, bovine, and rat brain PLPs indicates an unusually high homology in the coding regions. Hybridization analysis with DNA of human-rodent hybrid clones revealed that the gene encoding PLP segregates with human X chromosome in the region q13-q22.
通过与标记的人蛋白脂蛋白（PLP）特异性cDNA克隆的DNA杂交，从人基因组文库中分离出编码人蛋白脂蛋白（PLP）的基因。整个PLP基因跨度约为17千碱基。限制性内切酶和序列分析揭示了7个外显子和6个内含子。确定了外显子以及外显子-内含子转换区的完整核苷酸序列，并测量了内含子长度。外显子I仅包含翻译区域的ATGG、N端甲硫氨酸密码子以及成熟PLP的第一个氨基酸甘氨酸的G。PLP的每个疏水跨膜和顺式膜结构域及其相邻的亲水序列与该基因的一个外显子密切相关，但C端跨膜螺旋由两个外显子编码。从核酸序列推导的人PLP的氨基酸序列高度保守。人和大鼠的PLP完全同源，而从蛋白质测序和部分cDNA克隆推导的牛PLP序列中只有四个氨基酸残基发生了交换。对人、牛和大鼠脑PLP在核酸水平上的同源性搜索表明，编码区具有异常高的同源性。用人-啮齿动物杂交克隆的DNA进行杂交分析表明，编码PLP的基因在q13-q22区域与人X染色体连锁。
