A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex mo...
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2019
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oai:doaj.org-article:537687cf25cf49f1921e6233fca5ffb92021-12-02T17:02:17ZA frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy10.1038/s41467-019-10746-42041-1723https://doaj.org/article/537687cf25cf49f1921e6233fca5ffb92019-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10746-4https://doaj.org/toc/2041-1723Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex model of inheritance.Konstantinos NikopoulosKatarina CisarovaMathieu QuinodozHanna Koskiniemi-KuendigNoriko MiyakePietro FarinelliAtta Ur RehmanMuhammad Imran KhanAndrea PrunottoMasato AkiyamaYoichiro KamataniChikashi TeraoFuyuki MiyaYasuhiro IkedaShinji UenoNobuo FuseAkira MurakamiYuko WadaHiroko TerasakiKoh-Hei SonodaTatsuro IshibashiMichiaki KuboFrans P. M. CremersZoltán KutalikNaomichi MatsumotoKoji M. NishiguchiToru NakazawaCarlo RivoltaNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-7 (2019) |
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Science Q Konstantinos Nikopoulos Katarina Cisarova Mathieu Quinodoz Hanna Koskiniemi-Kuendig Noriko Miyake Pietro Farinelli Atta Ur Rehman Muhammad Imran Khan Andrea Prunotto Masato Akiyama Yoichiro Kamatani Chikashi Terao Fuyuki Miya Yasuhiro Ikeda Shinji Ueno Nobuo Fuse Akira Murakami Yuko Wada Hiroko Terasaki Koh-Hei Sonoda Tatsuro Ishibashi Michiaki Kubo Frans P. M. Cremers Zoltán Kutalik Naomichi Matsumoto Koji M. Nishiguchi Toru Nakazawa Carlo Rivolta A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| description |
Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex model of inheritance. |
| format |
article |
| author |
Konstantinos Nikopoulos Katarina Cisarova Mathieu Quinodoz Hanna Koskiniemi-Kuendig Noriko Miyake Pietro Farinelli Atta Ur Rehman Muhammad Imran Khan Andrea Prunotto Masato Akiyama Yoichiro Kamatani Chikashi Terao Fuyuki Miya Yasuhiro Ikeda Shinji Ueno Nobuo Fuse Akira Murakami Yuko Wada Hiroko Terasaki Koh-Hei Sonoda Tatsuro Ishibashi Michiaki Kubo Frans P. M. Cremers Zoltán Kutalik Naomichi Matsumoto Koji M. Nishiguchi Toru Nakazawa Carlo Rivolta |
| author_facet |
Konstantinos Nikopoulos Katarina Cisarova Mathieu Quinodoz Hanna Koskiniemi-Kuendig Noriko Miyake Pietro Farinelli Atta Ur Rehman Muhammad Imran Khan Andrea Prunotto Masato Akiyama Yoichiro Kamatani Chikashi Terao Fuyuki Miya Yasuhiro Ikeda Shinji Ueno Nobuo Fuse Akira Murakami Yuko Wada Hiroko Terasaki Koh-Hei Sonoda Tatsuro Ishibashi Michiaki Kubo Frans P. M. Cremers Zoltán Kutalik Naomichi Matsumoto Koji M. Nishiguchi Toru Nakazawa Carlo Rivolta |
| author_sort |
Konstantinos Nikopoulos |
| title |
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| title_short |
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| title_full |
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| title_fullStr |
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| title_full_unstemmed |
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy |
| title_sort |
frequent variant in the japanese population determines quasi-mendelian inheritance of rare retinal ciliopathy |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/537687cf25cf49f1921e6233fca5ffb9 |
| work_keys_str_mv |
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