Baird P N, D'Andrea R J, Goodall G J
Hanson Centre for Cancer Research, Institute of Medical and Veterinary Science, Adelaide, Australia.
Leuk Lymphoma. 1995 Aug;18(5-6):373-83. doi: 10.3109/10428199509059635.
Haemopoietic cytokines regulate haemopoietic cell function via specific cell surface receptors. These receptors are members of a large superfamily of transmembrane proteins and are characterised by a 200 amino acid extracellular sequence encoding the ligand binding domain. Several of the genes for members of this superfamily have now been characterised at the molecular level revealing a highly conserved organisation and a number of these genes have been localised cytogenetically. The recent finding that genes for the IL-3 and GM-CSF receptor alpha chain subunits colocalise to a small region of the pseudoautosomal region and the observation that the LIF receptor locus is present in a cluster of receptor genes on chromosome 5 suggest the possibility that subsets of cytokine receptor genes may be organised into clusters. This possibility is discussed and the potential significance of cytokine receptor gene clusters is assessed. Several of the receptor genes are known to be involved in inherited disorders and there is evidence to suggest lesions in cytokine receptor genes could have a role in leukaemia. We review the gene organisation, localisation and involvement in disease for the known cytokine receptor loci. This large family of receptors is expanding with the steady discovery of new members--all of which have the potential to be involved in human disorders.
造血细胞因子通过特定的细胞表面受体调节造血细胞功能。这些受体是一大类跨膜蛋白超家族的成员，其特征在于编码配体结合域的200个氨基酸的细胞外序列。现在，该超家族成员的几个基因已在分子水平上得到表征，揭示了高度保守的结构，并且其中一些基因已通过细胞遗传学定位。最近发现，IL-3和GM-CSF受体α链亚基的基因共定位于假常染色体区域的一个小区域，并且观察到LIF受体基因座存在于5号染色体上的受体基因簇中，这表明细胞因子受体基因的子集可能被组织成簇的可能性。本文讨论了这种可能性，并评估了细胞因子受体基因簇的潜在意义。已知一些受体基因与遗传性疾病有关，并且有证据表明细胞因子受体基因的损伤可能在白血病中起作用。我们综述了已知细胞因子受体基因座的基因结构、定位及其在疾病中的作用。随着新成员的不断发现，这个庞大的受体家族正在不断扩大，所有这些新成员都有可能与人类疾病有关。
