caa a22 4500 397575599 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1305 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1305 A Human Homologue of Drosophila Minibrain (Mnb) Is Expressed in the Neuronal Regions Affected in Down Syndrome and Maps to the Critical Region [Elektronische Daten] [Jordi Guimerâ, Caty Casas, Carles Pucharcôs, Asun Solans, Anna Domènech, Anna M. Planas, Jennifer Ashley, Michael Lovett, Xavier Estivill, Melanie A. Pritchard] The minibrain (mnb) gene of Drosophila melanogaster encodes a serine-threonine protein kinase with an essential role in postembryonic neurogenesis. A corresponding human gene with similar function to mnb could provide important insights into both normal brain development and the abnormal brain development and mental retardation observed in many congenital disorders. Trisomy 21 or Down syndrome (DS) is the most frequent human birth defect. It is associated with mental retardation and a broad spectrum of physical abnormalities. A region on human chromosome 21 has been designated the Down syndrome critical region (DSCR) and when present in three copies, this is responsible for many of the characteristic features of DS, including mental retardation. We have isolated a human homologue of mnb from the DSCR. MNB encodes a 6.1 kb transcript which is expressed in foetal brain, lung, kidney and liver. Using a human probe, two major transcripts (6.1 and 3.1 kb) were identified in mouse and expression was detected in situin several regions of the mouse brain, including the olfactory bulb, the cerebellum, the cerebral cortex, the pyramidal cell layer of the hippocampus and several hypothalamic nuclei. This expression pattern corresponds to the regions of the brain that are abnormal in individuals with DS and suggests that overexpression of MNB could have detrimental consequences in DS patients. © 1996 Oxford University Press Guimerâ Jordi Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Casas Caty Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Pucharcôs Carles Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Solans Asun Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Domènech Anna Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Planas Anna M. Pharmacology and Toxicology Department, Centro de Investigaciôn y Desarrolo, CSIC, Jordi Girona 18-26, 08034 Barcelona, Catalonia, Spain aut Ashley Jennifer Department of Biochemistry and the McDermott Centre, University of Texas Southwestern Medical Centre, 5323 Harry Hines Blvd., Dallas, Texas 75235-8591, USA aut Lovett Michael Department of Biochemistry and the McDermott Centre, University of Texas Southwestern Medical Centre, 5323 Harry Hines Blvd., Dallas, Texas 75235-8591, USA aut Estivill Xavier Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Pritchard Melanie A. Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1305-1310 0964-6906 5:9<1305 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1305 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1305 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Guimerâ Jordi Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Casas Caty Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Pucharcôs Carles Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Solans Asun Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Domènech Anna Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Planas Anna M. Pharmacology and Toxicology Department, Centro de Investigaciôn y Desarrolo, CSIC, Jordi Girona 18-26, 08034 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Ashley Jennifer Department of Biochemistry and the McDermott Centre, University of Texas Southwestern Medical Centre, 5323 Harry Hines Blvd., Dallas, Texas 75235-8591, USA aut NATIONALLICENCE 700 1- Lovett Michael Department of Biochemistry and the McDermott Centre, University of Texas Southwestern Medical Centre, 5323 Harry Hines Blvd., Dallas, Texas 75235-8591, USA aut NATIONALLICENCE 700 1- Estivill Xavier Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 700 1- Pritchard Melanie A. Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Catalonia, Spain aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1305-1310 0964-6906 5:9<1305 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