人类PEBP2αA/CBFA1转录本的cDNA克隆定位到6p12.3 - p21.1，该区域是锁骨颅骨发育不全的基因座。
The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.
作者信息
Zhang Y W, Bae S C, Takahashi E, Ito Y
机构信息
Department of Viral Oncology, Institute for Virus Research, Kyoto University, Sakyo-ku, Japan.
出版信息
Oncogene. 1997 Jul 17;15(3):367-71. doi: 10.1038/sj.onc.1201352.
PEBP2/CBF is a heterodimeric transcription factor composed of alpha and beta subunits. There are at least three closely related genes, PEBP2alphaA/Cbfa1, AML1/PEBP2alphaB/Cbfa2 and PEBP2alphaC/Cbfa3, encoding the alpha subunit and one beta subunit encoding gene. Structural alterations of AML1 and the beta subunit gene by chromosome translocations are frequently associated with several types of human leukemia. Structural changes of any of these gene products would have potential to affect the function of others. In this study, we isolated the human PEBP2alphaA cDNA by which we mapped the gene to 6p12.3-p21.1. Human chromosome 6p21 is the locus for cleidocranial dysplasia, an autosomal dominant bone disease. Recent gene disruption study revealed that PEBP2alphaA/Cbfa1 plays an essential role in osteogenesis (Komori et al., Cell, 1997, in press). Therefore, a close relationship between human PEBP2alphaA/CBFA1 and this bone disease is strongly implicated.
PEBP2/CBF是一种由α和β亚基组成的异二聚体转录因子。至少有三个密切相关的基因，即PEBP2αA/Cbfa1、AML1/PEBP2αB/Cbfa2和PEBP2αC/Cbfa3，编码α亚基，还有一个编码β亚基的基因。染色体易位导致的AML1和β亚基基因的结构改变常与几种人类白血病相关。这些基因产物中任何一个的结构变化都有可能影响其他产物的功能。在本研究中，我们分离出了人类PEBP2αA cDNA，并将该基因定位到6p12.3 - p21.1。人类染色体6p21是锁骨颅骨发育不全症的基因座，这是一种常染色体显性骨病。最近的基因敲除研究表明，PEBP2αA/Cbfa1在骨生成中起关键作用（小森等人，《细胞》，1997年，即将发表）。因此，人类PEBP2αA/CBFA1与这种骨病之间存在密切关联。
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