Nishina P M, North M A, Ikeda A, Yan Y, Naggert J K
AxyS Pharmaceuticals, Inc., La Jolla, California, 92037, USA.
Genomics. 1998 Dec 1;54(2):215-20. doi: 10.1006/geno.1998.5567.
Tubby and related proteins are derived from a small family of novel genes. The carboxytermini of this family are highly conserved across a number of species including humans, mice, Caenorhabditis elegans, Arabidopsis, rice, and maize. Splicing defects in both tub and another member of the gene family, TULP1 (tubby-like protein 1), lead to phenotypes of retinal degeneration in mice and humans, respectively. We describe here the isolation of the human and mouse homologs of a new family member, TULP3. The cDNAs code for proteins of 442 and 460 amino acids, respectively. The level of identity between the human TULP3 and the mouse homolog is 69%, lower than that observed for the homologs of the other family members (96% for human and mouse TUB), and is higher at the amino- and carboxytermini than in the central region of the protein. Phylogenetically, TULP3 is the family member most closely related to TUB. Also, like TUB, it has a wider pattern of tissue expression than either TULP1 or TULP2. TULP3 is detected at high levels in human RNA from testis, ovaries, thyroid, and spinal chord. Tulp3 is also highly expressed in mouse RNA from eyes and adipose depots, tissues not tested in the human Northern analysis. We also report that TULP3 maps to human chromosome 12p13. The murine homolog, Tulp3, maps to the telomere of mouse chromosome 6.
Tubby及相关蛋白源自一个新基因的小家族。该家族的羧基末端在包括人类、小鼠、秀丽隐杆线虫、拟南芥、水稻和玉米在内的多个物种中高度保守。tub基因以及该基因家族的另一个成员TULP1（类Tubby蛋白1）的剪接缺陷分别导致小鼠和人类出现视网膜变性的表型。我们在此描述了一个新家族成员TULP3的人类和小鼠同源物的分离。这些cDNA分别编码442和460个氨基酸的蛋白质。人类TULP3与小鼠同源物之间的同一性水平为69%，低于其他家族成员同源物所观察到的水平（人类和小鼠TUB为96%），并且在蛋白质的氨基末端和羧基末端比中央区域更高。在系统发育上，TULP3是与TUB关系最密切的家族成员。此外，与TUB一样，它的组织表达模式比TULP1或TULP2更广泛。在来自睾丸、卵巢、甲状腺和脊髓的人类RNA中检测到高水平的TULP3。Tulp3在来自眼睛和脂肪库的小鼠RNA中也高度表达，这些组织在人类Northern分析中未进行检测。我们还报告说，TULP3定位于人类染色体12p13。小鼠同源物Tulp3定位于小鼠染色体6的端粒。
