Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse Communicated by Haig H. Kazazian
dc.contributor.author | Gilbert, Nicolas | en_US |
dc.contributor.author | Bomar, Jamee M. | en_US |
dc.contributor.author | Burmeister, Margit L. | en_US |
dc.contributor.author | Moran, John V. | en_US |
dc.date.accessioned | 2006-04-19T14:15:08Z | |
dc.date.available | 2006-04-19T14:15:08Z | |
dc.date.issued | 2004-07 | en_US |
dc.identifier.citation | Gilbert, Nicolas; Bomar, Jamee M.; Burmeister, Margit; Moran, John V. (2004)."Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse Communicated by Haig H. Kazazian ." Human Mutation 24(1): 9-13. <http://hdl.handle.net/2027.42/35181> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/35181 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15221784&dopt=citation | en_US |
dc.description.abstract | B1 elements are an abundant class of short interspersed elements (SINEs) in the mouse genome and mobilize by a process known as retrotransposition. Here, we report the characterization of a mutagenic B1 insertion into exon 4 of the Atcay gene, which was previously shown to be responsible for the jittery mouse. Mutations in the human ortholog of this gene, ATCAY , are responsible for Cayman ataxia. The B1 insertion is ∼150-bp long, ends in a 45–50-bp polyadenylic acid (poly A) tail, is flanked by a perfect 13-bp target-site duplication, and is inserted into a sequence that resembles a LINE-1 endonuclease consensus cleavage site. Computational analysis indicates that the mutagenic insertion is most closely related to elements of the B1-C subfamily, and we have identified two possible progenitor B1 sequences on mouse chromosome 19. Together, these data demonstrate that B1 retrotransposition is ongoing in the mouse genome and is consistent with the hypothesis that the reverse transcriptase and endonuclease encoded by LINE-1 elements mediate B1 mobility. Hum Mutat 24:9–13, 2004. © 2004 Wiley-Liss, Inc. | en_US |
dc.format.extent | 264691 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse Communicated by Haig H. Kazazian | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan ; Institut de GÉnÉtique Humaine, CNRS, UPR 1142, 141 rue de la Cardonille, 34396 Montpellier cedex 5, France | en_US |
dc.contributor.affiliationum | Mental Health Research Institute, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan ; Mental Health Research Institute, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 15221784 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/35181/1/20060_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.20060 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.