http://www.cnr.it/ontology/cnr/individuo/prodotto/ID26848
Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista)
- Type
- Label
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista) (literal)
- Anno
- 2001-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1002/humu.1160 (literal)
- Alternative label
Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millan JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. (2001)
Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains
in Human mutation; Wiley-Liss, New York (Stati Uniti d'America)
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millan JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. (literal)
- Pagina inizio
- Pagina fine
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
- http://onlinelibrary.wiley.com/doi/10.1002/humu.1160/abstract;jsessionid=771E5B082AA5C220A4411F2C21719330.d02t04 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Note
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- International Institute of Genetics and Biophysics, CNR, Naples, Italy
Department of Biology, University of Padova, Padova, Italy
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Department of Medical Genetics, University of La Sapienza, Rome, Italy
CSS-Mendel Institute, Tor Vergata University, Rome, Italy
Medical Genetics, San Raffaele Institute, Milan, Italy
Eye Clinic, Second University of Naples, Naples, Italy (literal)
- Titolo
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (literal)
- Abstract
- X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly significative difference between RP3 and RP2 phenotypes. In the attempt to assess the degree of involvement of the RP2 gene, we performed a complete mutation analysis in a cohort of patients and we identified five novel mutations in five different XLRP families. These mutations include three missense mutations, a splice site mutation, and a single base insertion, which, because of frameshift, anticipates a stop codon. Four mutations fall in RP2 exon 2 and one in exon 3. Evidence that such mutations are different from the 21 RP2 mutations described thus far suggests that a high mutation rate occurs at the RP2 locus, and that most mutations arise independently, without a founder effect. Our mutation analysis confirms the percentage of RP2 mutations detected so far in populations of different ethnic origin. In addition to novel mutations, we report here that a deeper sequence analysis of the RP2 product predicts, in addition to cofactor C homology domain, further putative functional domains, and that some novel mutations identify RP2 amino acid residues which are evolutionary conserved, hence possibly crucial to the RP2 function (literal)
- Editore
- Prodotto di
- Autore CNR
- Insieme di parole chiave
Incoming links:
- Autore CNR di
- Prodotto
- Editore di
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Insieme di parole chiave di