Kremer E, Baker E, D'Andrea R J, Slim R, Phillips H, Moretti P A, Lopez A F, Petit C, Vadas M A, Sutherland G R
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.
Blood. 1993 Jul 1;82(1):22-8.
The receptors for interleukin-3 (IL-3), IL-5, and granulocyte-macrophage colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand specific alpha chains and a common beta chain. The genes encoding the IL-5 receptor alpha chain and the common beta chain reside on chromosome 3 and 22 respectively, while the GM-CSF receptor alpha chain gene (CSF2RA) has been mapped to the pseudoautosomal region (PAR) of the sex chromosomes, which is a 2.6-Mb stretch of homologous sequence at the tips of the short arms within which a single obligatory recombination occurs during male meiosis. We have mapped the gene encoding the IL-3 receptor alpha chain (IL3RA) to the sex chromosomes by polymerase chain reaction (PCR) analysis of human-mouse or human-chinese hamster cell hybrids, and to Yp13.3 and Xp22.3 using fluorescence in situ hybridization. To explore the possibility that IL3RA is located within the pseudoautosomal region we screened the Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees for an informative-restriction fragment-length polymorphism (RFLP) that showed male meiotic recombination. Two informative CEPH pedigrees were identified that displayed this phenomenon, confirming the psuedoautosomal location of IL3RA. Using long-range restriction mapping we have found that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR.
白细胞介素-3(IL-3)、IL-5和粒细胞-巨噬细胞集落刺激因子(GM-CSF)的受体是异二聚体,由配体特异性α链和一条共同的β链组成。编码IL-5受体α链和共同β链的基因分别位于3号和22号染色体上,而GM-CSF受体α链基因(CSF2RA)已被定位到性染色体的假常染色体区域(PAR),该区域是短臂末端2.6兆碱基的同源序列,在男性减数分裂过程中会发生一次强制性重组。我们通过对人-小鼠或人-中国仓鼠细胞杂种进行聚合酶链反应(PCR)分析,将编码IL-3受体α链(IL3RA)的基因定位到性染色体上,并使用荧光原位杂交将其定位到Yp13.3和Xp22.3。为了探究IL3RA是否位于假常染色体区域,我们在人类多态性研究中心(CEPH)家系中筛选了一个显示男性减数分裂重组的信息性限制性片段长度多态性(RFLP)。鉴定出两个显示这种现象的信息性CEPH家系,证实了IL3RA的假常染色体定位。使用长程限制性图谱分析,我们发现IL3RA与CSF2RA位于同一个190千碱基的限制性片段上,这表明一个细胞因子受体基因簇可能存在于PAR中。