Agulnik S I, Papaioannou V E, Silver L M
Department of Molecular Biology, Princeton University, Princeton, New Jersey, 08544, USA.
Genomics. 1998 Jul 1;51(1):68-75. doi: 10.1006/geno.1998.5278.
The T-box gene family has been conserved throughout metazoan evolution and codes for putative transcription factors that share a uniquely defining DNA-binding domain. We have previously uncovered six mouse T-box genes with discrete spatial and temporal patterns of expression during embryogenesis. Here, we report a novel mouse T-box gene, Tbx15. The Tbx15 gene produces a 3.7-kb transcript with an open reading frame coding for a polypeptide with 602 amino acid residues. Phylogenetic analysis places the Tbx15 gene into a T-box subfamily that also includes mouse Tbx1, Drosophila H15, and nematode Ce-tbx-12 genes. We have mapped mouse Tbx15 to chromosome 3, at a position 49 cM from the centromere. During development, Tbx15 transcripts are first detected at embryonic day 9.5. The gene is expressed primarily in the cranio-facial region and in the developing limbs. An isolated human homolog, TBX15, has been mapped by in situ hybridization to chromosomal band 1p13. TBX15 appears to be an excellent candidate for the dominantly expressed acromegaloid facial appearance syndrome, which also maps to the short arm of human chromosome 1 and, like TBX15, is expressed prominently in the eyebrow regions.
T-box基因家族在整个后生动物进化过程中一直保守，编码具有独特定义的DNA结合结构域的假定转录因子。我们之前已经发现了六个在胚胎发育过程中具有离散时空表达模式的小鼠T-box基因。在此，我们报告一个新的小鼠T-box基因Tbx15。Tbx15基因产生一个3.7 kb的转录本，其开放阅读框编码一个含有602个氨基酸残基的多肽。系统发育分析将Tbx15基因归入一个T-box亚家族，该亚家族还包括小鼠Tbx1、果蝇H15和线虫Ce-tbx-12基因。我们已将小鼠Tbx15定位到3号染色体上，距离着丝粒49 cM的位置。在发育过程中，Tbx15转录本首先在胚胎第9.5天被检测到。该基因主要在颅面部区域和发育中的肢体中表达。通过原位杂交已将一个分离出的人类同源基因TBX15定位到染色体带1p13。TBX15似乎是显性表达的肢端肥大样面容综合征的一个极佳候选基因，该综合征也定位于人类染色体1的短臂，并且与TBX15一样，在眉部区域有显著表达。
