Edwards Y H, Putt W, Lekoape K M, Stott D, Fox M, Hopkinson D A, Sowden J
Human Biochemical Genetics Unit, University College London, England.
Genome Res. 1996 Mar;6(3):226-33. doi: 10.1101/gr.6.3.226.
We have cloned the human gene encoding the transcription factor T. T protein is vital for the formation of posterior mesoderm and axial development in all vertebrates. Brachyury mutant mice, which lack T protein, die in utero with abnormal notochord, posterior somites, and allantois. We have identified human T genomic clones and derived the mRNA sequence and gene structure. There is 91% amino acid identity between human and mouse T proteins overall and complete identity across 77 amino acids of the T-box motif within the DNA-binding domain. Human T expression is very similar to that found for T in other vertebrate species and is confined to cells derived from the notochord. The human T gene maps to chromosome 6q27 and is only the second human member of the T-box gene family to be described.
我们已经克隆了编码转录因子T的人类基因。T蛋白对于所有脊椎动物中后中胚层的形成和轴向发育至关重要。缺乏T蛋白的短尾突变小鼠在子宫内死亡,伴有异常的脊索、后体节和尿囊。我们已经鉴定出人类T基因组克隆,并推导了mRNA序列和基因结构。人类和小鼠的T蛋白总体上有91%的氨基酸同一性,并且在DNA结合域内T-box基序的77个氨基酸上完全相同。人类T的表达与在其他脊椎动物物种中发现的T的表达非常相似,并且局限于源自脊索的细胞。人类T基因定位于6号染色体q27,并且是T-box基因家族中第二个被描述的人类成员。