Analysis of the human VPS13 gene family

Velayos‐Baeza, Antonio; Vettori, Andrea; Copley, Richard R.; Dobson‐Stone, Carol; Monaco, Anthony P.

doi:10.1016/j.ygeno.2004.04.012

Cited by 197 publications

(248 citation statements)

References 36 publications

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“…The COH1 gene maps to chromosome 8q22 and consists of 62 exons that encode for a potential transmembrane protein presumably involved in vesicle mediated sorting and intracellular protein transport Velayos-Baeza et al 2004). Five different splicing isoforms with an apparent differential expression are known.…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

et al. 2007

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Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented. Visual anomalies, namely retinopathy and myopia, were present in 9/10 patients (retinopathy in 9/10 and myopia in 8/10). Truncal obesity has been described in all patients older than 6 years (8/8). DNA samples from all patients were analyzed for mutations in COH1 by DHPLC. We detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. Partial gene deletions have been found in two families. Most mutations were private. Two were already reported in the literature just once. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families deriving from a restricted area of the Veneto's lowland, between Padova town and Tagliamento river, in heterozygous state. Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized.

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Section: Introductionmentioning

confidence: 99%

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

et al. 2007

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“…Among the SHR-interacting proteins was SHBY, a vacuolar sorting protein with similarity to VPS13 (COH1) (Marchler-Bauer et al, 2011). Velayos-Baeza et al (Velayos-Baeza et al, 2004) reported homology in the N terminus between SHBY and yeast VPS13p. The human homologs of VPS13p are mutated in choreaacanthocytosis and Cohen syndrome (Kolehmainen et al, 2003;Rampoldi et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

“…These domains are found in vacuolar sorting proteins from yeast to human (Marchler-Bauer et al, 2011). Mutations in these proteins are associated with defects in intracellular trafficking, protein turnover and Cohen syndrome in humans (Velayos-Baeza et al, 2004).…”

Section: Phenotype Of the Shby Mutantsmentioning

confidence: 99%

“…Among the isolated proteins were the bona fide SHR interacting proteins SCR, MAGPIE (MPG) and JACKDAW (JKD) (Cui et al, 2007;Welch et al, 2007), and multiple related zinc-finger domain transcription factors. We concentrated our analysis on an uncharacterized protein, SHBY with similarity to the gene responsible for Cohen syndrome in humans (Velayos-Baeza et al, 2004). Mutations in SHBY reduced meristem activity and increased cell divisions in the ground tissue.…”

Section: Introductionmentioning

confidence: 99%

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Identification of SHRUBBY, a SHORT-ROOT and SCARECROW interacting protein that controls root growth and radial patterning

Koizumi

Gallagher

2013

Development

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SUMMARYThe timing and extent of cell division is particularly important for the growth and development of multicellular organisms. Roots of the model organism Arabidopsis thaliana have been widely studied as a paradigm for organ development in plants. In the Arabidopsis root, the plant-specific GRAS family transcription factors SHORT-ROOT (SHR) and SCARECROW (SCR) are key regulators of root growth and of the asymmetric cell divisions that separate the ground tissue into two separate layers: the endodermis and cortex. To elucidate the role of SHR in root development, we identified 17 SHR-interacting proteins. Among those isolated was At5g24740, which we named SHRUBBY (SHBY). SHBY is a vacuolar sorting protein with similarity to the gene responsible for Cohen syndrome in humans. Hypomorphic alleles of shby caused poor root growth, decreased meristematic activity and defects in radial patterning that are characterized by an increase in the number of cell divisions in the ground tissue that lead to extra cells in the cortex and endodermis, as well as additional cell layers. Analysis of genetic and molecular markers indicates that SHBY acts in a pathway that partially overlaps with SHR, SCR, PLETHORA1 and PLETHORA2 (PLT1 and PLT2). The shby-1 root phenotype was partially phenocopied by treatment of wild-type roots with the proteosome inhibitor MG132 or the gibberellic acid (GA) synthesis inhibitor paclobutrazol (PAC). Our results indicate that SHBY controls root growth downstream of GA in part through the regulation of SHR and SCR.

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“…In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking membrane proteins between the trans-Golgi network and the prevacuolar compartment. It was reported that in wild-type yeast, insulin is ultimately delivered to the vacuole, whereas vps mutants secrete primarily unprocessed insulin-containing fusion protein 24) ; however, the function of human genes (VPS13A-D) has not been analyzed yet 25) . Some SNPs in intergenic regions also showed relatively small p values, such as rs2359536 (p 1.…”

Section: Discussionmentioning

confidence: 99%

Identification of Evidence Suggestive of an Association with Peripheral Arterial Disease at the OSBPL10 Locus by Genome-Wide Investigation in the Japanese Population

Kuroda

Nakagami

Katsuya

et al. 2010

JAT

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Aim: Peripheral arterial disease (PAD) is a common cause of cardiovascular morbidity and an independent predictor of cardiovascular mortality. However, little is known about the genetic basis of PAD. To elucidate this, we performed a two-staged genome-wide association study in Japanese individuals. Methods: We initially tested 222,285 single-nucleotide polymorphisms (SNPs). After the first screening in a panel of 195 PAD cases and 1,358 controls, 2,696 SNPs (1.2%) were further genotyped in the second screening using another panel of 699 PAD cases and 1540 controls. In both screenings, controls were subjects affected with some diseases other than PAD. Results: When analyzed in the combined panel, the strongest signal of PAD association was observed at rs1902341 in the intron of OSBPL10 (p 4.7E-7 for trend test; OR 1.31, 95% CI 1.18 − 1.46). Also, PAD was modestly associated at several other loci such as rs2554503 in CSMD1 (p 5.7E-5; OR 1.32, 95% CI 1.15 − 1.51) or rs235243 in VSP13D (p 0.04; OR 1.18, 95% CI 1.01 − 1.37). Conclusion: Our genome-wide exploration identified suggestive evidence of PAD association at the OSBPL10 locus. Because the association has not reached a genome-wide significant level, further replication study is warranted for verification in the Japanese population.

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Analysis of the human VPS13 gene family

Cited by 197 publications

References 36 publications

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Identification of SHRUBBY, a SHORT-ROOT and SCARECROW interacting protein that controls root growth and radial patterning

Identification of Evidence Suggestive of an Association with Peripheral Arterial Disease at the OSBPL10 Locus by Genome-Wide Investigation in the Japanese Population

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