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Study of Gene-Targe...
Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)
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Bujakowska, Kinga (författare)
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Maubaret, Cecilia (författare)
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Chakarova, Christina F. (författare)
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Tanimoto, Naoyuki (författare)
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Beck, Susanne C. (författare)
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Fahl, Edda (författare)
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Humphries, Marian M. (författare)
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Kenna, Paul F. (författare)
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Makarov, Evgeny (författare)
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Makarova, Olga (författare)
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- Paquet-Durand, Francois (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Ekström, Per (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- van Veen, Theo (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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Leveillard, Thierry (författare)
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Humphries, Peter (författare)
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Seeliger, Mathias W. (författare)
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Bhattacharya, Shomi S. (författare)
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(creator_code:org_t)
- Association for Research in Vision and Ophthalmology (ARVO), 2009
- 2009
- Engelska.
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Ingår i: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 1552-5783. ; 50:12, s. 5927-5933
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- PURPOSE. Pre-mRNA processing factor 31 (PRPF31) is a ubiquitous protein needed for the assembly of the pre-mRNA splicing machinery. It has been shown that mutations in this gene cause autosomal dominant retinitis pigmentosa 11 (RP11), which is characterized by rod-cell degeneration. Interestingly, mutations in this ubiquitously expressed gene do not lead to phenotypes other than retinal malfunction. Furthermore, the dominant inheritance pattern has shown incomplete penetrance, which poses interesting questions about the disease mechanism of RP11. METHODS. To characterize PRPF31 function in the rod cells, two animal models have been generated. One was a heterozygous knock-in mouse (Prpf31(A216P/+)) carrying a point mutation p.A216P, which has previously been identified in RP11 patients. The second was a heterozygous knockout mouse (Prpf31(+/-)). Retinal degeneration in RP11 mouse models was monitored by electroretinography and histology. RESULTS. Generation of the mouse models is presented, as are results of ERGs and retinal morphology. No degenerative phenotype on fundus examination was found in Prpf31(A216P/+) and Prpf31(+/-) mice. Prpf31(A216P/A216P) and Prpf31(-/-) genotypes were embryonic lethal. CONCLUSIONS. The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor. The authors suggest that p.A216P mutation in Prpf31 does not exert a dominant negative effect and that one Prpf31 wild-type allele is sufficient for maintenance of the healthy retina in mice.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
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Bujakowska, King ...
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Maubaret, Cecili ...
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Chakarova, Chris ...
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Tanimoto, Naoyuk ...
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Beck, Susanne C.
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Fahl, Edda
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visa fler...
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Humphries, Maria ...
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Kenna, Paul F.
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Makarov, Evgeny
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Makarova, Olga
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Paquet-Durand, F ...
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Ekström, Per
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van Veen, Theo
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Leveillard, Thie ...
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Humphries, Peter
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Seeliger, Mathia ...
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Bhattacharya, Sh ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Oftalmologi
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Investigative Op ...
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Lunds universitet