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Nature Genetics 37: 407-412, April 2005
Frequent somatic mutations of the transcription factor ATBF1 in human prostate cancer Nature Genetics 37: , April 2005 染色体16番 関連ヒト疾患例: 胃癌 (Oncogene 2001), 乳癌 (Clin. Can. Res 2005), 前立腺癌 (Nat. Genet. 2005), glioblastoma multiforme, medulloblastomas, primitive neuroectodermal tumors, a primitive neuroectodermal tumor of the pineal region, primary ependymomas, primary ependymomas (57%), neurofibroma, acute myeloid leukaemia, myofibromatosis, familial AML,pulmonary adenocarcinoma, small cell lung carcinoma, malignant adipose tissue tumors, malignant peripheral nerve sheath tumor, nephroblastomas, hepatocellular carcinomas, acute B-cell lymphoblastic leukemia, gallbladder carcinoma, multiple myeloma, tuberous sclerosis and sporadic lymphangiomyomatosis, autosomal dominant cerebellar ataxia, type I psoriasis. ATBF1の遺伝子地図 100 200 300-kb イントロン ATBF1-A 11447 87548 6460 60518 81331 17741 127 1312 4407-bp P1 P2 ATG 1 2 3 4 5 6 7 8 9 10 623 2769 498 232 81 133 201 5460 1790-bp 103 エクソン ATBF1-B J. Bio. Chem. (1995) Nat.Genet. (April 2005) P2は神経発生に特異的なプロモータ P1はATBF1-Bを転写開始させる特異性が未知のプロモータ エクソン9には核移行シグナル配列が含まれ、DNA結合に必須の情報をコードする（このATBF1機能異常を抗体を使って検出する---特許申請中）
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