WFRF:(De Baere E)
Sökning: WFRF:(De Baere E) > De novo intrachromo...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03065naa a2200529 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:133801749 | |
| 003 | SwePub | |
| 008 | 240701s2016 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1338017492 URI |
| 024 | 7 | a https://doi.org/10.1038/srep282532 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Buena-Atienza, E4 aut |
| 245 | 1 0 | a De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy |
| 264 | c 2016-06-24 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2016 |
| 520 | a 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. | |
| 700 | 1 | a Ruther, K4 aut |
| 700 | 1 | a Baumann, B4 aut |
| 700 | 1 | a Bergholz, R4 aut |
| 700 | 1 | a Birch, D4 aut |
| 700 | 1 | a De Baere, E4 aut |
| 700 | 1 | a Dollfus, H4 aut |
| 700 | 1 | a Greally, MT4 aut |
| 700 | 1 | a Gustavsson, Pu Karolinska Institutet4 aut |
| 700 | 1 | a Hamel, CP4 aut |
| 700 | 1 | a Heckenlively, JR4 aut |
| 700 | 1 | a Leroy, BP4 aut |
| 700 | 1 | a Plomp, AS4 aut |
| 700 | 1 | a Pott, JWR4 aut |
| 700 | 1 | a Rose, K4 aut |
| 700 | 1 | a Rosenberg, T4 aut |
| 700 | 1 | a Stark, Z4 aut |
| 700 | 1 | a Verheij, JBGM4 aut |
| 700 | 1 | a Weleber, R4 aut |
| 700 | 1 | a Zobor, D4 aut |
| 700 | 1 | a Weisschuh, N4 aut |
| 700 | 1 | a Kohl, S4 aut |
| 700 | 1 | a Wissinger, B4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Scientific reportsd : Springer Science and Business Media LLCg 6, s. 28253-q 6<28253-x 2045-2322 |
| 856 | 4 | u https://doi.org/10.1038/srep28253 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:133801749 |
| 856 | 4 8 | u https://doi.org/10.1038/srep28253 |
Hitta mer i SwePub
- Av författaren/redakt...
- Buena-Atienza, E
- Ruther, K
- Baumann, B
- Bergholz, R
- Birch, D
- De Baere, E
- visa fler...
- Dollfus, H
- Greally, MT
- Gustavsson, P
- Hamel, CP
- Heckenlively, JR
- Leroy, BP
- Plomp, AS
- Pott, JWR
- Rose, K
- Rosenberg, T
- Stark, Z
- Verheij, JBGM
- Weleber, R
- Zobor, D
- Weisschuh, N
- Kohl, S
- Wissinger, B
- visa färre...
- Artiklar i publikationen
- Scientific repor ...
- Av lärosätet
- Karolinska Institutet
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