Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX)
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Delbridge, Margaret; McMillan, Daniel; Doherty, Ruth; Deakin, Janine; Graves, Jennifer
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BACKGROUND: The human X chromosome has a biased gene content. One group of genes that is over-represented on the human X are those expressed in the brain, explaining the large number of sex-linked mental retardation (MRX) syndromes. RESULTS: To determine if MRX genes were recruited to the X, or whether their brain-specific functions were acquired after relocation to the mammalian X chromosome, we examined the location and expression of their orthologues in marsupials, which diverged from...[Show more]
dc.contributor.author | Delbridge, Margaret | |
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dc.contributor.author | McMillan, Daniel | |
dc.contributor.author | Doherty, Ruth | |
dc.contributor.author | Deakin, Janine | |
dc.contributor.author | Graves, Jennifer | |
dc.date.accessioned | 2009-05-07T01:12:55Z | |
dc.date.accessioned | 2010-12-20T06:03:36Z | |
dc.date.available | 2009-05-07T01:12:55Z | |
dc.date.available | 2010-12-20T06:03:36Z | |
dc.identifier.citation | BMC Genomics 9.65 (2008) | |
dc.identifier.issn | 1471-2164 | |
dc.identifier.uri | http://hdl.handle.net/10440/243 | |
dc.identifier.uri | http://digitalcollections.anu.edu.au/handle/10440/243 | |
dc.description.abstract | BACKGROUND: The human X chromosome has a biased gene content. One group of genes that is over-represented on the human X are those expressed in the brain, explaining the large number of sex-linked mental retardation (MRX) syndromes. RESULTS: To determine if MRX genes were recruited to the X, or whether their brain-specific functions were acquired after relocation to the mammalian X chromosome, we examined the location and expression of their orthologues in marsupials, which diverged from human approximately 180 million years ago. We isolated and mapped nine tammar wallaby MRX homologues, finding that six were located on the tammar wallaby X (which represents the ancient conserved mammal X) and three on chromosome 5, representing the recently added region of the human X chromosome. The location of MRX genes within the same synteny groups in human and wallaby does not support the hypothesis that genes with an important function in the brain were recruited in multiple independent events from autosomes to the mammalian X chromosome. Most of the tammar wallaby MRX homologues were more widely expressed in tammar wallaby than in human. Only one, the tammar wallaby ARX homologue (located on tammar chromosome 5p), has a restricted expression pattern comparable to its pattern in human. The retention of the brain-specific expression of ARX over 180 million years suggests that this gene plays a fundamental role in mammalian brain development and function. CONCLUSION: Our results suggest all the genes in this study may have originally had more general functions that became more specialised and important in brain function during evolution of humans and other placental mammals. | |
dc.format | 10 pages | |
dc.publisher | BioMed Central | |
dc.rights | This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited | |
dc.source | BMC Genomics | |
dc.source.uri | http://www.biomedcentral.com/content/pdf/1471-2164-9-65.pdf | |
dc.source.uri | http://www.biomedcentral.com/1471-2164/9/65 | |
dc.subject | Keywords: brain protein; fragile X mental retardation protein; article; autosome; brain development; brain function; chromosome 5; chromosome 5p; controlled study; evolutionary homology; gene expression; gene isolation; gene location; gene mapping; genetic conserva | |
dc.title | Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX) | |
dc.type | Journal article | |
local.identifier.citationvolume | 9 | |
dcterms.dateAccepted | 2008-02-05 | |
dc.date.issued | 2008-02-05 | |
local.identifier.absfor | 060405 | |
local.identifier.ariespublication | u9204316xPUB470 | |
local.type.status | Published Version | |
local.contributor.affiliation | Delbridge, Margaret, Research School of Biological Sciences, Comparative Genomics Research Group | |
local.contributor.affiliation | McMillan, Daniel, Research School of Biological Sciences, Comparative Genomics Research Group | |
local.contributor.affiliation | Doherty, Ruth, Faculty of Science | |
local.contributor.affiliation | Deakin, Janine, Research School of Biological Sciences, Comparative Genomics Research Group | |
local.contributor.affiliation | Graves, Jennifer, Research School of Biological Sciences, Comparative Genomics Research Group | |
local.bibliographicCitation.issue | 65 | |
local.bibliographicCitation.startpage | 1 | |
local.bibliographicCitation.lastpage | 10 | |
local.identifier.doi | 10.1186/1471-2164-9-65 | |
dc.date.updated | 2015-12-10T07:25:42Z | |
local.identifier.scopusID | 2-s2.0-41449113015 | |
local.identifier.thomsonID | 000254606500001 | |
Collections | ANU Research Publications |
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