caa a22 4500 397573553 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.789 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.789 A Transcription Map of the Digeorge and Velo-Ardio-Facial Syndrome Minimal Critical Region on 22q11 [Elektronische Daten] [Weilong Gong, Beverly S. Emanuel, Joelle Collins, David H. Kim, Zhili Wang, Feng Chen, Guozhong Zhang, Bruce Roe, Marcia L. Budarf] The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) have a microdeletion of 22q11. Using translocation breapoints and fluorescence in situ hybridization analysis (FISH), the minimal DiGeorge critical region (MDGCR) has been narrowed to 250 kb in the vicinity of D22S75 (N25). The construction of a detailed transcription map covering the MDGCR is an essential first step toward the identification of genes important to the etiology of DGS/VCFS, two complex disorders. We have identified a minimum of 11 transcription units encoded in the MDGCR using a combination of methods including cDNA selection, RT-PCR, RACE and genomic sequencing. This approach is somewhat unique and may serve as a model for gene identification. Of the 11 transcripts, one is the previously reported DGCR2/IDD/ LAN gene, and three revealed a high level of similarity to mammalian genes: a Mus musculus serine/threonine kinase, a rat tricarboxylate transport protein and a bovine clathrin heavy chain. The remaining transcripts do not demonstrate any significant homology to genes of known function. The identification of these transcription units in the MDGCR will facilitate their further characterization and help elucidate their role in the etiology of DGS/VCFS. © 1996 Oxford University Press Gong Weilong The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Emanuel Beverly S. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Collins Joelle The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Kim David H. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Wang Zhili Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut Chen Feng Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut Zhang Guozhong Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut Roe Bruce Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut Budarf Marcia L. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 789-800 0964-6906 5:6<789 1996 5 hmg https://doi.org/10.1093/hmg/5.6.789 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.789 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gong Weilong The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Emanuel Beverly S. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Collins Joelle The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Kim David H. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Wang Zhili Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut NATIONALLICENCE 700 1- Chen Feng Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut NATIONALLICENCE 700 1- Zhang Guozhong Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut NATIONALLICENCE 700 1- Roe Bruce Departments of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA aut NATIONALLICENCE 700 1- Budarf Marcia L. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 789-800 0964-6906 5:6<789 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford