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Nag, N.* ; Peterson, K.* ; Wyatt, K.* ; Hess, S.* ; Ray, S.* ; Favor, J. ; Bogani, D.* ; Lyon, M.* ; Wistow, G.*

Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.

Genomics 89, 512-520 (2007)
Verlagsversion DOI PMC
Open Access Gold
No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf cluster. Although polymorphic variants were observed, no candidate mutations were found for six of the genes. However, DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for gammaE-crystallin. Recombinant protein for the mutant gammaE was completely insoluble. The No3 cataract is mild compared with the effects of similar mutations of gammaE. Quantitative RT-PCR showed that gammaE/F mRNA levels are reduced in No3, suggesting that the relatively mild phenotype results from suppression of gammaE levels due to ERVK insertion. However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Cataract; Crystallin; Endogenous retrovirus
Sprache
Veröffentlichungsjahr 2007
HGF-Berichtsjahr 0
ISSN (print) / ISBN 0888-7543
e-ISSN 1089-8646
Zeitschrift Genomics
Quellenangaben Band: 89, Heft: 4, Seiten: 512-520 Artikelnummer: , Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-002
PubMed ID 17223009
DOI 10.1016/j.ygeno.2006.12.003
WOS ID 000245560000008
Scopus ID 33947136892
Erfassungsdatum 2007-04-22
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