Lalioti M D, Chen H, Rossier C, Shafaatian R, Reid J D, Antonarakis S E
Department of Genetics and Microbiology, University of Geneva Medical School, Geneva 4, CH-1211, Switzerland.
Genomics. 1996 Jul 15;35(2):321-7. doi: 10.1006/geno.1996.0363.
We have used exon trapping to contribute to the development of the transcription map of chromosome 21q22.3 and to clone the genes responsible for disorders that map in the 21q22.3 region. Polypeptides deduced from three trapped sequences that map near PFKL showed homology to the yeast PWP2 gene. The full-length coding region of a human homologue of this yeast gene was subsequently cloned from human infant brain and fetal kidney cDNA libraries. The 919-codon open reading frame of human PWP2 belongs to the family of genes that contain tryptophan-aspartate (WD) repeats; other than its yeast counterpart, PWP2 is most closely homologous to the beta subunits of the trimeric G-protein family and may putatively be involved in signal transduction. Northern blot analysis revealed that the PWP2 gene is expressed in all fetal and adult human tissues examined (3.4 kb mRNA species). This single-copy gene maps approximately 200 kb proximal to PFKL in chromosome 21q22.3 between markers EHOC-1 and D21S25.
我们利用外显子捕获技术来推动21号染色体q22.3区域转录图谱的绘制，并克隆与定位于21q22.3区域的疾病相关的基因。从定位于磷酸果糖激酶L（PFKL）附近的三个捕获序列推导的多肽与酵母PWP2基因显示出同源性。随后从人类婴儿脑和胎儿肾cDNA文库中克隆出该酵母基因人类同源物的全长编码区。人类PWP2的919密码子开放阅读框属于含有色氨酸-天冬氨酸（WD）重复序列的基因家族；除了其酵母对应物外，PWP2与三聚体G蛋白家族的β亚基最为密切同源，可能参与信号转导。Northern印迹分析显示，PWP2基因在所有检测的胎儿和成人组织中均有表达（3.4 kb mRNA种类）。这个单拷贝基因定位于21号染色体q22.3中PFKL近端约200 kb处，位于标记EHOC-1和D21S25之间。
