title: T gene isoform expression pattern is significantly different between chordomas and notochords.
abstract: The T gene plays a key role in chordoma pathology. To investigate the role of T gene isoforms in chordoma, 22 skull base chordomas, three chordoma cell lines and 9 infant notochords, which were used as normal controls, were collected. We first conducted droplet digital PCR to quantify the absolute expression levels of the long and short isoforms of the T gene (T-long and T-short, respectively) and revealed that T-long was dominantly expressed in all chordomas and chordoma cell lines, but not in the notochords. The T-long/T-short ratio was significantly different between the chordomas and the notochords. Next, we validated the isoform expression pattern at protein expression level using Western blot in 9 chordomas. Furthermore, the T gene single nucleotide polymorphism site rs2305089, which is the only marker reported to be associated with chordomas, was sequenced in all of the chordoma samples. Association between rs2305089 and T-long/T-short ratio was not significant, indicating it was not involved in T gene alternative splicing. In conclusion, two T gene isoforms were investigated in skull base chordomas and chordoma cell lines, and the longer isoform was dominantly expressed. The distinct expression patterns of these T gene isoforms may contribute to the pathogenesis of skull base chordomas. However, further studies on the function of these isoforms are needed.
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: wangke15903@163.com.
authors.forename: Ke
authors.initials: K
authors.lastname: Wang
authors.affiliation: Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address: huqingtao1987@163.com.
authors.forename: Qingtao
authors.initials: Q
authors.lastname: Hu
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: saintage7@126.com.
authors.forename: Liang
authors.initials: L
authors.lastname: Wang
authors.affiliation: Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China. Electronic address: chenw@big.ac.cn.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: tiankaibing@126.com.
authors.forename: Kaibing
authors.initials: K
authors.lastname: Tian
authors.affiliation: State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China. Electronic address: ccw370920866@163.com.
authors.forename: Chunwei
authors.initials: C
authors.lastname: Cao
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: wuzhen1966@aliyun.com.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wu
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: jgjttyy@aliyun.com.
authors.forename: Guijun
authors.initials: G
authors.lastname: Jia
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: zlwtt@hotmail.com.
authors.forename: Liwei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China. Electronic address: czeng@big.ac.cn.
authors.forename: Changqing
authors.initials: C
authors.lastname: Zeng
authors.affiliation: Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, NCRC-ND, Tiantan Xili 6, Dongcheng District, Beijing 100050, China. Electronic address: zhangjunting2003@aliyun.com.
authors.forename: Junting
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D045744:Cell Line, Tumor; D002648:Child; D002817:Chordoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005326:Fetal Proteins / Q000235:genetics* / Q000378:metabolism; D005333:Fetus; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D009672:Notochord / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D019292:Skull Base Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism; D000098908:Brachyury Protein
chemical_list: D005326:Fetal Proteins; D020033:Protein Isoforms; D020825:T-Box Domain Proteins; D000098908:Brachyury Protein
keywords: Brachyury; Chordoma; Isoform; T gene