Vitale Lorenza, Casadei Raffaella, Canaider Silvia, Lenzi Luca, Strippoli Pierluigi, D'Addabbo Pietro, Giannone Sandra, Carinci Paolo, Zannotti Maria
Istituto di Istologia ed Embriologia Generale, Università di Bologna, Bologna-Centro di Ricerca in Genetica Molecolare Fondazione CARISBO, Bologna, Via Belmeloro, Bologna, Italy.
Gene. 2002 May 15;290(1-2):141-51. doi: 10.1016/s0378-1119(02)00550-4.
A novel human gene has been identified by in-depth bioinformatics analysis of chromosome 21 segment 40/105 (21q21.1), with no coding region predicted in any previous analysis. Brain-derived DNA complementary to RNA (cDNA) sequencing predicts a 154-amino acid product with no similarity to any known protein. The gene has been named cysteine and tyrosine-rich protein 1 gene (symbol cysteine and tyrosine-rich 1, CYYR1). The CYYR1 messenger RNA was found by Northern blot analysis in a broad range of tissues (two transcripts of 3.4 and 2.2 kb). The gene consists of four exons and spans about 107 kb, including a very large intron of 85.8 kb. Analysis of expressed sequence tags shows high CYYR1 expression in cells belonging to the amine precursor uptake and decarboxylation system. We also cloned the cDNA of the murine ortholog Cyyr1, which was mapped by a radiation hybrid panel on chromosome 16 within the region corresponding to that containing the respective human homolog on chromosome 21. Sequence and phylogenetic analysis led to identification of several genes encoding CYYR1 homologous proteins. The most prominent feature identified in the protein family is a central, unique cysteine and tyrosine-rich domain, which is strongly conserved from lower vertebrates (fishes) to humans but is absent in bacteria and invertebrates.
通过对21号染色体40/105区段（21q21.1）进行深入的生物信息学分析，鉴定出一个新的人类基因，在以往任何分析中均未预测到其编码区。与RNA互补的脑源性DNA（cDNA）测序预测出一个154个氨基酸的产物，与任何已知蛋白质均无相似性。该基因被命名为富含半胱氨酸和酪氨酸的蛋白1基因（符号：富含半胱氨酸和酪氨酸1，CYYR1）。通过Northern印迹分析在多种组织中发现了CYYR1信使RNA（3.4 kb和2.2 kb的两种转录本）。该基因由四个外显子组成，跨度约107 kb，包括一个85.8 kb的非常大的内含子。对表达序列标签的分析表明，CYYR1在属于胺前体摄取和脱羧系统的细胞中高表达。我们还克隆了小鼠直系同源基因Cyyr1的cDNA，通过辐射杂种细胞系将其定位在16号染色体上与21号染色体上相应人类同源基因所在区域相对应的区域内。序列和系统发育分析导致鉴定出几个编码CYYR1同源蛋白的基因。在该蛋白家族中鉴定出的最显著特征是一个位于中央的、独特的富含半胱氨酸和酪氨酸的结构域，该结构域从低等脊椎动物（鱼类）到人类都高度保守，但在细菌和无脊椎动物中不存在。
