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人类白细胞介素-3受体(IL3RA)α亚基的基因定位于X-Y假常染色体区域。

Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.

作者信息

Milatovich A, Kitamura T, Miyajima A, Francke U

机构信息

Department of Genetics, Stanford University School of Medicine, CA.

出版信息

Am J Hum Genet. 1993 Nov;53(5):1146-53.

Abstract

Interleukin-3 (IL3) and granulocyte/macrophage colony-stimulating factor (CSF2) stimulate proliferation and differentiation of various hemopoietic cell types. As is characteristic of the cytokine receptor family, the receptors for these proteins comprise alpha- and beta-subunits. While IL3 and CSF2 receptors each have unique alpha- subunits, they share a common beta-subunit. By Southern analysis of somatic cell hybrid panels, pulsed-field gel electrophoresis (PFGE), and fluorescence chromosomal in situ hybridization, we have mapped the cloned sequence for the IL3 receptor alpha (IL3RA) to the X-Y pseudoautosomal region at bands Xp22.3 and Yp11.3, near the gene for the alpha-subunit of the CSF2 receptor (CSF2RA). The CSF2RA and IL3RA genes are so close that their order could not be determined by two-color interphase in situ hybridization. They share PFGE fragments generated by different restriction enzymes down to the 50-100-kb size range. Pseudoautosomal inheritance was demonstrated by an EcoRI RFLP detected with the IL3RA cDNA probe.

摘要

白细胞介素-3(IL3)和粒细胞/巨噬细胞集落刺激因子(CSF2)可刺激多种造血细胞类型的增殖和分化。这些蛋白质的受体具有细胞因子受体家族的特征,由α亚基和β亚基组成。虽然IL3和CSF2受体各自具有独特的α亚基,但它们共享一个共同的β亚基。通过对体细胞杂交板进行Southern分析、脉冲场凝胶电泳(PFGE)以及荧光染色体原位杂交,我们已将IL3受体α(IL3RA)的克隆序列定位到X-Y假常染色体区域的Xp22.3和Yp11.3带,靠近CSF2受体(CSF2RA)α亚基的基因。CSF2RA和IL3RA基因非常接近,以至于无法通过双色间期原位杂交确定它们的顺序。它们共享由不同限制酶产生的PFGE片段,直至50 - 100 kb大小范围。用IL3RA cDNA探针检测到的EcoRI限制性片段长度多态性(RFLP)证明了假常染色体遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6195/1682314/e3eef7650d77/ajhg00056-0181-a.jpg

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