Chrast R, Chen H, Morris M A, Antonarakis S E
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
Genomics. 1995 Jul 1;28(1):119-22. doi: 10.1006/geno.1995.1117.
Exon trapping/amplification was used to clone portions of genes from human chromosome 21. One trapped sequence showed complete homology with nucleotide sequence D13318 of GenBank, which corresponds to the gene for human transcription factor E4TF1-60 (HGMW-approved nomenclature GABPA). We mapped this gene to human chromosome 21 by FISH, somatic cell hybrids, and hybridization to chromosome 21-specific YACs. The GABPA gene localizes to YACs 816B7 and 848G1 of the Chumakov et al. (Nature 359: 380, 1992) YAC contig, near the APP gene in 21q21-q22.1. This transcription factor, which is an ETS-related DNA-binding protein and forms heterodimers with other polypeptides, may contribute in a gene dosage-dependent manner to the phenotype of Down syndrome.
外显子捕获/扩增技术被用于从人类21号染色体上克隆基因片段。一个捕获到的序列与GenBank中的核苷酸序列D13318完全同源，该序列对应人类转录因子E4TF1 - 60的基因（HGMW认可的命名为GABPA）。我们通过荧光原位杂交（FISH）、体细胞杂种以及与21号染色体特异性酵母人工染色体（YAC）杂交，将该基因定位到人类21号染色体上。GABPA基因定位于Chumakov等人（《自然》359: 380, 1992）的YAC重叠群中的YAC 816B7和848G1，位于21q21 - q22.1的APP基因附近。这种转录因子是一种与ETS相关的DNA结合蛋白，并与其他多肽形成异二聚体，可能以基因剂量依赖的方式对唐氏综合征的表型产生影响。
