Assignment of CSF-1 to 5q33.1: evidence for clustering of genes regulating hematopoiesis and for their involvement in the deletion of the long arm of chromosome 5 in myeloid disorders.
Assignment of CSF-1 to 5q33.1: evidence for clustering of genes regulating hematopoiesis and for their involvement in the deletion of the long arm of chromosome 5 in myeloid disorders.
复制标题
CSF-1 与 5q33.1 的分配：调节造血作用的基因簇及其参与骨髓疾病中 5 号染色体长臂缺失的证据。
DOI：
10.1073/pnas.84.9.2970
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发表时间：
1987
影响因子：
11.1
通讯作者：
Rowley,JD
中科院分区：
文献类型：
--
作者：
Pettenati,MJ;LeBeau,MM;Lemons,RS;Shima,EA;Kawasaki,ES;Larson,RA;Sherr,CJ;Diaz,MO;Rowley,JD
CSF-1 基因编码造血集落刺激因子 (CSF)，可促进单核吞噬细胞的生长、分化和存活。通过使用体细胞杂交和原位杂交，我们将该基因定位于人类 5 号染色体的 q31 至 q35 条带，这是骨髓疾病患者中经常被删除的染色体区域 [del(5q)]。通过原位杂交，发现一名具有 del(5)(q15q33.3) 的难治性贫血患者的 5q 染色体中的 CSF-1 基因被删除，而另一名具有类似远端断点的急性非淋巴细胞白血病患者的 5q 染色体上的 CSF-1 基因被删除 [del(5)(q13q33.3)]。该基因存在于第三位患有与治疗相关的急性非淋巴细胞白血病的患者的删除染色体中，该患者在 q33 带中有一个更近端的断点 [del(5)(q22q33.1)]。 CSF-1 探针与第四名急性非淋巴细胞白血病患者的中期细胞杂交，该患者的 5 号和 21 号染色体发生重排 [ins(21;5)(q22;q31.3q33.1)]，导致两条重排染色体的断点连接处被标记；这表明 CSF-1 位于 5q33.1。因此，5 号染色体的一小段包含 GM-CSF（编码粒细胞巨噬细胞 CSF 的基因）、CSF-1 和 FMS（编码 CSF-1 受体），从着丝粒开始依次排列；这组基因可能与 5q 缺失相关的造血功能改变有关。
The CSF-1 gene encodes a hematopoietic colony-stimulating factor (CSF) that promotes growth, differentiation, and survival of mononuclear phagocytes. By using somatic cell hybrids and in situ hybridization, we localized this gene to human chromosome 5 at bands q31 to q35, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, the CSF-1 gene was found to be deleted in the 5q- chromosome of a patient with refractory anemia who had a del(5)(q15q33.3) and in that of a second patient with acute nonlymphocytic leukemia de novo who had a similar distal breakpoint [del(5)(q13q33.3)]. The gene was present in the deleted chromosome of a third patient, with therapy-related acute nonlymphocytic leukemia, who had a more proximal breakpoint in band q33 [del(5)(q22q33.1)]. Hybridization of the CSF-1 probe to metaphase cells of a fourth patient, with acute nonlymphocytic leukemia de novo, who had a rearrangement of chromosomes 5 and 21 [ins(21;5)(q22;q31.3q33.1)] resulted in labeling of the breakpoint junctions of both rearranged chromosomes; this suggested that CSF-1 is located at 5q33.1. Thus, a small segment of chromosome 5 contains GM-CSF (the gene encoding the granulocyte-macrophage CSF), CSF-1, and FMS, which encodes the CSF-1 receptor, in that order from the centromere; this cluster of genes may be involved in the altered hematopoiesis associated with a deletion of 5q.