Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humans

Zangerl, Barbara; Goldstein, Orly; Philp, Alisdair R.; Lindauer, S. J.; Pearce-Kelling, Susan E.; Mullins, Robert F.; Graphodatsky, Alexander S.; Ripoll, Daniel R.; Felix, Jeanette S.; Stone, Edwin M.; Acland, Gregory M.; Aguirre, Gustavo D.

doi:10.1016/j.ygeno.2006.07.007

Cited by 161 publications

(204 citation statements)

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“…2A). However, low-level expression was detectable in retina, which is consistent with independent reports showing PRCD expression in retina and retinal pigment epithelium/choroids (55). In contrast, RHBDF2 and CYGB expression was detectable by RT-PCR in NOSE, benign and LMP tumour samples, and malignant ovarian cancer samples (Fig.…”

Section: Defining the 17q25 Tsg Locussupporting

confidence: 91%

“…The absence of PRCD expression in normal and tumour ovarian tissues combined with reported tissue-specific expression in retinal cells (55) suggests that this gene is unlikely to play a role in ovarian cancer. In contrast, the differential expression of both RHBDF2 and CYGB in malignant ovarian cancer samples and EOC cell lines suggests a possible role in this disease.…”

Section: Discussionmentioning

confidence: 99%

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Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

et al. 2012

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Abstract. It has been proposed that the frequent loss of heterozygosity (LOH) of an entire chromosome 17 contig in epithelial ovarian cancers (EOC) is the consequence of the inactivation of multiple tumour suppressor genes on this chromosome. We report the characterization of a 453 Kb 17q25 locus shown previously to exhibit a high frequency of LOH in EOC samples. LOH analysis further defined the minimal region of deletion to a 65 Kb interval flanked by D17S2239 and D17S2244, which contains RHBDF2, CYGB and PRCD as tumour suppressor gene candidates. Tissue specific expression excluded PRCD as a candidate. RHBDF2 was expressed at low levels in the majority of benign and low malignant potential (LMP) tumours, and in a subset of malignant ovarian tumour samples, as compared with primary cultures of normal ovarian surface epithelial cell (NOSE) samples. CYGB was expressed at low levels in the majority of LMP and malignant samples compared with benign and NOSE samples. In contrast to CYGB expression, RHBDF2 was expressed at low or undetectable levels in EOC cell lines exhibiting tumourigenic characteristics and up-regulated in a genetically modified EOC cell line rendered non-tumourigenic. DNA sequence analysis identified variants but no apparent deleterious mutations in either gene. Methylation-specific PCR analysis suggested that promoter methylation of CYGB but not RHBDF2 occurred in 6 of 31 malignant samples. The results combined suggest that RHBDF2 and CYGB may play distinctive roles in ovarian cancer and could be added to the growing roster of chromosome 17 genes implicated in this disease.

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Section: Defining the 17q25 Tsg Locussupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

et al. 2012

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“…A mutação genética foi descoberta por ZANGERL et al (2006) e AGUIRRE-HERNANDEZ et al (2007. Nesses estudos, os autores observaram que a mutação ocorre no segundo códon onde a base nitrogenada guanina é substituída por adenina (Tiamina-Guanina-Citosina -TGC para TiaminaAdenina-Citosina -TAC).…”

Section: Etiologia E Fisiopatogenia Da Atrofi a Progressiva Generalizunclassified

Atrofia progressiva generalizada da retina em cães da raça Cocker Spaniel

et al. 2013

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“…The disease onset and progression may vary significantly among patients, even within the same family. The patients frequently experience night blindness in the early phase of the disease, The molecular basis of human retinal and vitreoretinal diseases Collin et al, 2008; den Hollander et al, 1999; Dryja et al, 1995; Gal et al., 2000; Huang et al, 1995; Martinez-Mir et al, 1998;Maw et al, 1997;Maw et al, 2000;McLaughlin et al, 1993; Morimura et al, 1998;Nakazawa et al, 1998; Rivolta et al, 2000;Thompson et al, 2001;Tuson et al, 2004;Zangerl et al, 2006;Zhang et al, 2007b) or dominant (Abid et al, 2006; Bowne et al, 2002; Chakarova et al, 2002; Chakarova et al, 2007;Farrar et al, 1991;Freund et al, 1997;Friedman et al, 2009; Kajiwara et al, 1991; Kajiwara et al, 1994; Keen et al, 2002; Kennan et al, 2002;McKie et al, 2001; Rebello et al, 2004; Sato et al, 2005;Vithana et al, 2001;Wada et al, 2001;Zhang et al, 2007a;Zhao et al, 2009), as well as X-linked (Meindl et al, 1996; Roepman et al, 1996a; Roepman et al, 1996b; Schwahn et al, 1998).Interestingly, mutations in several genes can be either dominant or recessive (Bernal et al, 2008; Bessant et al, 1999; Coppieters et al, 2007;Davidson et al, 2009; Dryja et al, 1990; Morimura et al, 1999; Pierce et al, 1999;Sullivan et al, 1999). The splicing category will now be discussed in more detail.…”

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confidence: 99%

The molecular basis of human retinal and vitreoretinal diseases

Berger¹,

Kloeckener-Gruissem²,

Neidhardt³

2010

Progress in Retinal and Eye Research

503

443

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The molecular basis of human retinal and vitreoretinal diseases pathologies of other tissues (syndromic forms) or only affects the retina, retinal pigment epithelium and the vireous body (non-syndromic forms). In addition, the mode of inheritance was used as one characteristic feature of the different disease phenotypes in order to categorize them. Our aim was to provide a comprehensive overview about the molecular basis of retinal and vitreoretinal diseases and to discuss selected aspects in more detail. Non-syndromic retinal and vitreoretinal diseases Diseases of rod photoreceptor cells (stationary and progressive)Rod photoreceptors represent the vast majority of light sensitive cells in the human retina. There are approximately 20 times more rods than cones. These cells are spezialized for low light intensities and are responsible for visual perception under dim light conditions. The center of the human retina, which contains the macula and fovea centralis, is devoid of rod photoreceptor cells but the flanking areas have the highest rod content, which decreases almost lineary towards the retinal periphery.The two major classes of stationary and progressive retinal diseases in humans arerepresented by different forms of stationary night blindness and retinitis pigmentosa, respectively. Congenital stationary night blindness / stationary rod diseasesAs the name implies, congenital stationary night blindness (CSNB) is a nonprogressive visual impairment present at birth. However, it is also one of the first symptoms in progressive diseases, including retinitis pigmentosa (RP). Therefore, a differential diagnosis by genetic testing can provide helpful and important information to the affected individuals and families, in order to exclude or confirm the clinical diagnosis and to provide counselling. Bech-Hansen et al., 1998; Bech-Hansen et al., 2000;Dryja et al., 1993; Dryja et al., 1996; Dryja et al., 2005; Fuchs et al., 1995;Gal et al., 1994;Li et al., 2009; Pusch et al., 2000;Strom et al., 1998;Wycisk et al., 2006;Yamamoto et al., 1997;Zeitz et al., 2005;Zeitz et al., 2006 inheritance. The disease was found to be due to mutations in the alpha subunit of transducin (Dryja et al., 1996). The Schubert Bornschein disease can be subdivided in (i) CSNB1 or complete CSNB and (ii) CSNB2 or incomplete CSNB. In CSNB1, the rod b-wave is significantly reduced or absent, while that of the cones is largely Retinitis pigmentosa and progressive rod cone diseasesThe term retinitis pigmentosa (RP) describes a group of clinically similar phenotypes associated with genetically heterogeneous causes. The disease onset and progression may vary significantly among patients, even within the same family. The patients frequently experience night blindness in the early phase of the disease, The molecular basis of human retinal and vitreoretinal diseases Collin et al., 2008; den Hollander et al., 1999; Dryja et al., 1995; Gal et al., 2000; Huang et al., 1995; Martinez-Mir et al., 1998;Maw et al., 1997;Maw et al., 2000;McLaughlin et a...

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Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humans

Cited by 161 publications

References 25 publications

Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

Atrofia progressiva generalizada da retina em cães da raça Cocker Spaniel

The molecular basis of human retinal and vitreoretinal diseases

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