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    De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

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    8
    Author
    Buena-Atienza, E; Rüther, K; Baumann, B; Bergholz, R; Birch, D; De Baere, E; Dollfus, H; Greally, MT; Gustavsson, P; Hamel, CP; ...
    Date
    2016-06-24
    Source Title
    Scientific Reports
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Stark, Zornitza
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Buena-Atienza, E., Rüther, K., Baumann, B., Bergholz, R., Birch, D., De Baere, E., Dollfus, H., Greally, M. T., Gustavsson, P., Hamel, C. P., Heckenlively, J. R., Leroy, B. P., Plomp, A. S., Pott, J. W. R., Rose, K., Rosenberg, T., Stark, Z., Verheij, J. B. G. M., Weleber, R. ,... Wissinger, B. (2016). De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.. Sci Rep, 6 (1), pp.28253-. https://doi.org/10.1038/srep28253.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/259611
    DOI
    10.1038/srep28253
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4919619
    Abstract
    X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay. Nine haplotypes resulted in aberrant splicing of ≥20% of transcripts including the known pathogenic haplotypes (i.e. 'LIAVA', 'LVAVA') with absent or minute amounts of correctly spliced transcripts, respectively. De novo formation of the 'LIAVA' haplotype derived from an ancestral less deleterious 'LIAVS' haplotype was observed in one family with strikingly different phenotypes among affected family members. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. Gene conversion in the OPN1LW/OPN1MW genes has been postulated, however, we are first to demonstrate a de novo gene conversion within the lineage of a pedigree.

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