参与唐氏综合征的21号染色体2.5兆碱基CBR-ERG区域的转录图谱。

Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

作者信息

Dahmane N, Ghezala G A, Gosset P, Chamoun Z, Dufresne-Zacharia M C, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo M L, Korn B, Blouin J L, Lehrach H, Poutska A, Antonarakis S E, Sinet P M, Créau N, Delabar J M

机构信息

CNRS URA 1335, Faculté de Médecine Necker-Enfants Malades, Paris, France.

出版信息

Genomics. 1998 Feb 15;48(1):12-23. doi: 10.1006/geno.1997.5146.

DOI:10.1006/geno.1997.5146

PMID:9503011

Abstract

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. Cosmid contigs covering 80% of the region were constructed and EcoRI maps produced. These cosmids were used for exon trapping and cDNA selection from three cDNA libraries (fetal brain, fetal liver, and adult skeletal muscle). Isolated exons and cDNAs were mapped on the EcoRI map, organized into contigs, sequenced, and used as probes for Northern blot analysis of RNA from fetal and adult tissues. We identified 27 genuine or highly probable transcriptional units evenly distributed along the CBR-ERG region. Eight of the transcriptional units are known genes.

摘要

21号染色体上位于基因CBR和ERG之间的区域（CBR - ERG区域），位于21q22.2，跨度为2.5 Mb，是通过对部分21三体综合征患者的分析确定的。它对唐氏综合征许多特征的发病机制有显著影响，包括形态特征、肌张力减退和智力迟钝。构建了覆盖该区域80%的黏粒重叠群并绘制了EcoRI图谱。这些黏粒用于从三个cDNA文库（胎儿脑、胎儿肝和成人骨骼肌）中进行外显子捕获和cDNA选择。分离出的外显子和cDNA被定位在EcoRI图谱上，组装成重叠群，进行测序，并用作探针，对来自胎儿和成人组织的RNA进行Northern印迹分析。我们在CBR - ERG区域确定了27个真实的或极有可能的转录单位，它们沿该区域均匀分布。其中八个转录单位是已知基因。