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Down syndrome: searching for the genetic culprits

Lana-Elola, E; Watson-Scales, SD; Fisher, EMC; Tybulewicz, VLJ; (2011) Down syndrome: searching for the genetic culprits. DIS MODEL MECH , 4 (5) 586 - 595. 10.1242/dmm.008078. Gold open access

Abstract

Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and results in a large number of phenotypes, including learning difficulties, cardiac defects, distinguishing facial features and leukaemia. These are likely to result from an increased dosage of one or more of the similar to 310 genes present on Hsa21. The identification of these dosage-sensitive genes has become a major focus in DS research because it is essential for a full understanding of the molecular mechanisms underlying pathology, and might eventually lead to more effective therapy. The search for these dosage-sensitive genes is being carried out using both human and mouse genetics. Studies of humans with partial trisomy of Hsa21 have identified regions of this chromosome that contribute to different phenotypes. In addition, novel engineered mouse models are being used to map the location of dosage-sensitive genes, which, in a few cases, has led to the identification of individual genes that are causative for certain phenotypes. These studies have revealed a complex genetic interplay, showing that the diverse DS phenotypes are likely to be caused by increased copies of many genes, with individual genes contributing in different proportions to the variance in different aspects of the pathology.

Type: Article
Title: Down syndrome: searching for the genetic culprits
Open access status: An open access publication
DOI: 10.1242/dmm.008078
Keywords: CONGENITAL HEART-DEFECTS, HUMAN-CHROMOSOME 21, TS65DN MOUSE MODEL, AMYLOID PRECURSOR PROTEIN, LONG-TERM POTENTIATION, ALZHEIMERS-DISEASE, TC1 MOUSE, SYNDROME PHENOTYPES, TRANSGENIC MICE, SYNAPTIC PLASTICITY
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1323049
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