Elsevier

Leukemia Research

Volume 21, Issue 9, September 1997, Pages 833-839
Leukemia Research

Original article
C/EBP-ε: Chromosomal mapping and mutational analysis of the gene in leukemia and preleukemia

https://doi.org/10.1016/S0145-2126(97)00072-6Get rights and content

Abstract

We and others have cloned a novel human gene CCAAT/enhancer-binding protein ε (C/EBP-ε) encoding a member of the C/EBP gene family. It is exclusively expressed in myeloid and T-lymphoid cells and appears to have an important role in inducing expression of several myeloid-specific genes. We used a polymerase chain reaction (PCR)-based technique to examine DMA from 93 hamster/human radiation hybrid clones in order chromosomally to map C/EBP-ε to 14q11.2 (between D14S264 and D14S275) which is telomeric to the T-cell receptor α and δ genes and centromeric to several other myeloid gene products including Cathepsin G (CTSG) and Chymase-1 (CMA1). To determine whether C/EBP-ε behaves as an altered tumor-suppressor gene, samples from patients with acute myelogenous leukemia (AML and myelodysplastic syndrome (MDS) evolving to AML were studied for loss of heterozygosity (LOH) using microsatellite sequences that we identified within 0.2 kb of the amino-terminus of the human C/EBP-ε, gene. Allelic loss of the C/EBP-ε gene was detected in four out of 20 (20%) evolving MDS cases and in none of the 17 AML and 17 T-cell leukemia cases. Mutational analysis of the gene was performed using PCR-SSCP on 37 AML and 40 MDS cases including those with LOH at the gene. No abnormalities were found suggesting that the altered gene in this region is not C/EBP-ε. Also, C/EBP-ε was examined by Southern blot analysis on DNA samples from 20 AML patients and 10 AML cell lines. No rearrangements or amplifications of the gene were detected. Taken together, we have mapped C/EBP-ε to 14q11.2, a region containing other myeloid and T-lymphoid specific genes. Furthermore, no structural alterations were detected in the C/EBP-ε gene.

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