Strippoli P, Petrini M, Lenzi L, Carinci P, Zannotti M
Istituto di Istologia ed Embriologia GeneraleVia Belmeloro, 8-40126 (BO), Bologna, Italy.
Gene. 2000 Oct 31;257(2):223-32. doi: 10.1016/s0378-1119(00)00407-8.
A recently recognized gene family, conserved from yeast to humans, includes Down syndrome candidate region 1 gene (DSCR1), Adapt78 (recognized as the hamster ortholog of the DSCR1 isoform 4), ZAKI-4 (renamed DSCR1-like 1, DSCR1L1) and DSCR1L2 (a novel gene on human chromosome 1), along with yeast and C. elegans single members (Strippoli P., Lenzi L., Petrini M., Carinci P., Zannotti M., 2000. A new gene family including DSCR1 (Down Syndrome Candidate Region 1) and ZAKI-4: characterization from yeast to human and identification of DSCR1-like 2, a novel human member. Genomics 64, 252-263). The proposed family labels were a putative single-strand nucleic acid binding domain similar to the RNA recognition motif, and a unique, highly-conserved serine-proline motif. We have used a bioinformatics-driven molecular biology approach to characterize the murine members of DSCR1-like gene family. Systematic expressed-sequence-tags (EST) database search and reverse-transcription polymerase chain rection (RT-PCR) product sequencing allowed identification of the murine DSCR1, DSCR1L1 and DSCR1L2. The sequences of the respective protein products are of 198, 197 and 241 amino acids, respectively, and are very similar to the corresponding human proteins. The very broad expression pattern of the murine DSCR1 genes is similar to that of the human genes. Using a radiation hybrid panel, we mapped the murine DSCR1-like family members. The murine DSCR1 ortholog is located on the chromosome 16, in a region corresponding to that on human chromosome 21 just upstream of the Down syndrome candidate region. DSCR1L1 and DSCR1L2 murine genes are also located in chromosomal segments of chromosome 17 and 4, respectively, exactly corresponding to those containing the respective human homologs on chromosomes 6 and 1. Description of the mouse orthologs for DSCR1-like genes will allow knockout mice to be obtained for specific family members.
最近发现的一个从酵母到人类都保守的基因家族，包括唐氏综合征候选区域1基因（DSCR1）、Adapt78（被认为是DSCR1亚型4的仓鼠直系同源基因）、ZAKI-4（重新命名为DSCR1样1，即DSCR1L1）和DSCR1L2（人类1号染色体上的一个新基因），以及酵母和秀丽隐杆线虫的单个成员（Strippoli P.，Lenzi L.，Petrini M.，Carinci P.，Zannotti M.，2000年。一个包括DSCR1（唐氏综合征候选区域1）和ZAKI-4的新基因家族：从酵母到人类的特征分析以及DSCR1样2的鉴定，一个新的人类成员。基因组学64，252 - 263）。所提出的家族标签是一个类似于RNA识别基序的假定单链核酸结合结构域，以及一个独特的、高度保守的丝氨酸 - 脯氨酸基序。我们采用了一种由生物信息学驱动的分子生物学方法来表征DSCR1样基因家族的小鼠成员。通过系统的表达序列标签（EST）数据库搜索和逆转录聚合酶链反应（RT-PCR）产物测序，鉴定出了小鼠的DSCR1、DSCR1L1和DSCR1L2。各自蛋白质产物的序列分别为198、197和241个氨基酸，并且与相应的人类蛋白质非常相似。小鼠DSCR1基因非常广泛的表达模式与人类基因的相似。利用辐射杂种细胞系，我们对小鼠DSCR1样家族成员进行了定位。小鼠DSCR1的直系同源基因位于16号染色体上，在与人类21号染色体上唐氏综合征候选区域上游相对应的区域。小鼠DSCR1L1和DSCR1L2基因也分别位于17号和4号染色体的染色体片段中，与染色体6和1上各自包含人类同源基因的区域完全对应。对DSCR1样基因的小鼠直系同源基因的描述将有助于获得特定家族成员的基因敲除小鼠。
