Vincent Raymond

Université Laval | ULAVAL · Department of Molecular Medicine

The neurodegenerative disease glaucoma is one of the leading causes of blindness in the world. Glaucoma is characterized by progressive visual field loss caused by retinal ganglion cell (RGC) death. Both surgical glaucoma treatments and medications are available, however, they only halt glaucoma progression and are unable to reverse damage. Further...

Luciferase transactivation by FOXC1 through upstream regions of RAB3GAP2 and SNAP25 in a pGL3 reporter. Transactivation experiments with plasmid expressing FOXC1, and reporter construct (pGL3) containing (A) The 211bp RAB3GAP2 upstream region, pGL3.R3G2.del and pGL3.FOXO1 (positive control) (B) The 151bp SNAP25 upstream region (pGL3.SNAP25) and SNA...

Primers used for cloning and PCR. (PDF)

Endogenous and exogenous MYOC levels in HeLa cells. HeLa cells were either transfected with pRc-MYOC (WT) or left untreated. After three days a sample of cell media was taken and the cells were lysed. Protein lysates or media samples were used for western blot analysis. Antibodies against MYOC and TFIID (loading control) were used to detect protein...

Aim: To study the effects of triamcinolone acetonide (TA) on cultured human trabecular meshwork (HTM) cells. Materials and Methods: HTM cells were cultured and treated with 125, 250, 500 and 1000 μg/mL concentration of TA for 24 h. The cells were treated with both crystalline TA (TA-C) (commercial preparation) and solubilized TA (TA-S). Cell viabi...

Purpose: To study the effects of dexamethasone sodium phosphate (Dex) on human trabecular meshwork (HTM) cells in vitro. Methods: HTM cells were treated with Dex 2 mg/ml, 1 mg/ml, 0.5 mg/ml, 0.25 mg/ml, 0.1 mg/ml, or 0.05 mg/ml for 24 h. Cell viability was measured by a trypan blue exclusion test. Caspase-3/7, -8, -9 and -12 activities were meas...

Background Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. A gen...

Background Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. A gen...

Mutations of the PITX2 gene cause Axenfeld-Rieger syndrome (ARS) and glaucoma. In this study, the authors investigated genes directly regulated by the PITX2 transcription factor to gain insight into the mechanisms underlying these disorders. RNA from nonpigmented ciliary epithelium cells transfected with hormone-inducible PITX2 and activated by mif...

To investigate the role of multigenic variation in primary open-angle glaucoma (POAG) involving the rRNA processing gene WD repeat domain 36 (WDR36). We examined the heat shock protein 70/90 (HSP70/90)-organizing co-chaperone stress-induced-phosphoprotein 1 (STI1) as a potential co-modifying gene in glaucoma patients found to harbor WDR36 amino aci...

To search for the genetic cause of juvenile open-angle glaucoma (JOAG) in a Caucasian family and to perform genotype/phenotype correlation studies in the kindred. Six members of a three-generation family originating from Uzbekistan and now living in the Middle East were recruited from one large clinic in Israel. Ophthalmologic investigations compri...

Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. POAG is associated with a characteristic progression of changes to ocular morphology and degeneration at the optic nerve head with the loss of visual fields. Physical mapping efforts identified genomic loci in which to search for causative POAG gene mutations. WDR36, at l...

In order to identify the potential peripheral signals of appetite and satiety from duodenum, we have performed a transcriptomic study in the mucosa after high-fat (HF) and low-fat (LF) meal ingestion. After fasting, one group of mice was killed and the others were fed ad libitum with HF or LF diet, and killed 30 min, 1 h, and 3 h after the beginnin...

Mutations in the human FOXC1 transcription factor gene underlie Axenfeld-Rieger (AR) syndrome, a disorder characterized by anterior segment malformations in the eye and glaucoma. Through the use of an inducible FOXC1 protein, along with an intermediate protein synthesis blocker, we have determined direct targets of FOXC1 transcriptional regulation....

Between November 2005 and October 2006, a total of 106 academic and corporate researchers requested the services of the CRCHUL Genomic Sequencing and Genotyping Platform. All procedures are performed by only one manager and two research assistants. During this one-year period, we sequenced 205,000 DNA samples using only one ABI 3730xl DNA analyzer....

TIGR/MYOC mutations account for 2-4% of the primary open-angle glaucoma (POAG) patients. More than 90% of the known mutations are located within its carboxy-terminus olfactomedin-homology (Olf) domain (amino acids (aa) 245-504). In vitro and in vivo studies showed that several Olf domain mutations prevented myocilin secretion. To investigate if int...

To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open angle glaucoma (JOAG) and to screen the novel glaucoma gene WD repeat domain 36 (WDR36). Complete ophthalmic examination and genomic DNA were obtained from 27 family members, in which nine were confirmed JOAG patients. Myocilin (MYOC), optineurin (OP...

To search for the genetic cause of juvenile-onset open-angle glaucoma (JOAG) in a Chinese family. In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 pat...

To ascertain whether there is a common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian families with primary open-angle glaucoma (POAG). Family pedigree study. A disease haplotype for the Q368STOP mutation of the myocilin gene has previously been identified in 15 Tasmanian families with POAG. The four mic...

Intra-abdominal fat accumulation is related to several diseases, especially diabetes and heart disease. Molecular mechanisms associated with this independent risk factor are not well established. Through the serial analysis of gene expression (SAGE) strategy, we have studied the transcriptomic effects of castration and dihydrotestosterone (DHT) in...

To characterize DNA mutations in a pedigree of Axenfeld-Rieger anomaly (ARA) (Online Mendelian Inheritance of Man 601631), a clinically and genetically heterogeneous, autosomal dominantly inherited disorder associated with anterior chamber abnormalities and glaucoma. Observational case-control and DNA linkage and screening studies. Affected (10 cas...

To investigate mechanism(s) by which mutations in the olfactomedin domain of myocilin (MYOC), also known as the trabecular meshwork-induced glucocorticoid response (TIGR) gene, cause autosomal dominant open-angle glaucoma, the structure and properties of wild-type (WT) MYOC protein were examined, when expressed alone or simultaneously with the Q368...

To describe the genomic expression profile or transcriptome of adipose tissue using the serial analysis of gene expression method. The serial analysis of gene expression strategy is based on isolation of short sequences (tags), which usually correspond to unique transcripts, and on their concatenation into long DNA molecules, which are then cloned...

The aim of this study was to identify the transcriptome of the normal mouse uterus by Serial Analysis of Gene Expression method. mRNA was extracted from the uterus and also from the gastrocnemius muscle of mice. Short sequences (tags), each one usually corresponding to a distinct transcript, were isolated and concatemerized into long DNA molecules...

To characterize the gene expression pattern in the human trabecular meshwork (TM) and identify candidate genes for glaucoma by expressed sequence tag (EST) analysis as part of the NEIBank project. RNA was extracted from dissected human TM and used to construct unamplified, un-normalized cDNA libraries in the pSPORT1 vector. More than 4000 clones we...

Primary open-angle glaucoma (POAG) is a complex disorder characterized by a progressive and treatable degeneration of the optic nerve. TIGR/myocilin (MYOC) gene mutations are found in approximately 4% of all POAG patients. Populations with frequent founder effects, such as the French-Canadians, offer unique advantages to implement genetic testing f...

Paget disease of bone (PDB) is a common disorder characterized by focal and disorganized increases of bone turnover. Genetic factors are important in the pathogenesis of PDB. We and others recently mapped the third locus associated with the disorder, PDB3, at 5q35-qter. In the present study, by use of 24 French Canadian families and 112 unrelated s...

The opticin (OPTC) gene encodes a protein that is a member of the small leucine-rich repeat protein (SLRP) family. OPTC is located on chromosome 1q31-q32 within an age-related macular degeneration (AMD) susceptibility locus. We have developed an affinity-purified N-terminal anti-opticin antibody and used it to examine opticin expression in human ey...

Paget disease of bone is characterized by focal increases of the bone-remodeling process. It is the second most common metabolic bone disease after osteoporosis. Genetic factors play a major role in the etiology of Paget disease of bone, and two loci have been mapped for the disorder: PDB1 and PDB2. The gene(s) causing the typical form of the disor...

We have screened a human adult iris cDNA library to identify genes that are highly expressed and conserved between humans and pigs. We identified human iris cDNAs that hybridized at high stringency to a porcine choroidal ring cDNA probe. Of 1568 human iris cDNAs examined, 176 were found to have high expression in porcine choroidal rings. One of the...

To identify and characterize genes expressed in the iris. A human adult iris cDNA library was constructed and subjected to a differential selection screen to identify genes preferentially expressed in iris or trabecular tissue versus those expressed in lymphoblasts. Selected cDNAs were partially sequenced. Novel cDNAs were chosen for further analys...

Following detection of linkage between atopy and chromosome 11q13 markers, association between this disorder and variants of the β subunit of the high-affinity receptor for immunoglobulin E (FcεRI-β, a candidate gene for asthma-related conditions co-localizing within the same region) was reported in Australian, British and Japanese populations. Inv...

Genetic linkage, genome mismatch scanning, and analysis of patients with alterations of chromosome 6 have indicated that a major locus for development of the anterior segment of the eye, IRID1, is located at 6p25. Abnormalities of this locus lead to glaucoma. FKHL7 (also called "FREAC3"), a member of the forkhead/winged-helix transcription-factor f...

Autosomal dominant disorders typically result in more severe clinical manifestations in mutant homozygotes than in heterozygotes1. Huntington disease is the only reported non-neoplastic human pathology in which no phenotypic variance has been detected between these two types of carriers, and where the mutant allele is truly dominant over its wild-t...

Glaucoma encompasses a complex of ocular-disease entities characterized by an optic neuropathy in which degeneration of retinal ganglion cells leads to a characteristic excavation of the head of the optic nerve. Such damage causes progressive narrowing of the visual fields and, when uncontrolled, blindness. Affected people often have ocular hyperte...

Purpose. We previously reported a very large French-Canadian family in which the GLCIA gene on chromosome Iq23-q25 was associated with autosomal dominant openangle glaucoma and displayed phenotypic variability and age-dependent penetrance. To assess the need and acceptability of detecting at risk individuals before appearance of early signs of glau...

Purpose. We previously described a very large French-Canadian pedigree in which the GLCIA gene on chromosome Iq23-q25 was responsible for autosomal dominant open-angle glaucoma. Penetrance of the GLCIA mutation was estimated at > 90% in carriers above 40 years old. To find potential homozygotes and therefore determine the effect of the GLCIA mutati...

Purpose. Age of onset, severity and inheritance are features distinguishing juvenile (JOAG) and adult-onset open-angle glaucomas (COAG). We previously described a huge French-Canadian family in which the GLC1A gene on chromosome 1q23-q25 was responsible for both subtypes of glaucomas suggesting that, within this pedigree, JOAG and COAG may be part...

The 11q21-22 region is of interest for schizophrenia because several candidate genes are located in this section of the genome. The 11q21-22 region, including DRD2, was surveyed by linkage analysis in a sample (N = 242) made of four large multigenerational pedigrees densely affected by schizophrenia (SZ) and eight others by bipolar disorder (BP). T...

The different 3' noncoding AU-rich elements (ARE) that mediate the degradation of many short-lived mRNAs may function through distinct decay pathways; translation-dependent and -independent mechanisms have been proposed. To investigate the cotranslational model, we designed an expression system that exploits the properties of the ferritin iron-resp...

Primary open-angle glaucoma (POAG), which causes progressive loss of the visual fields, was subdivided into two groups according to age at onset: (1) chronic open-angle glaucoma (COAG) diagnosed after age 40 years and (2) juvenile open-angle glaucoma (JOAG) diagnosed between 3 years of age and early adulthood. A JOAG gene (GLC1A) was recently mappe...

Primary open-angle glaucoma (POAG) encompasses a complex of ocular disease entities characterized by an optic neuropathy causing progressive loss of the visual fields and usually associated with elevated intraocular pressure. POAG can be subdivided into two groups according to age of onset: (1) the more prevalent middle to late-age onset chronic op...

To the Editor.— A search for the concurrence of cytogenetic anomalies and major psychiatric disorders transmitted within the same family is certainly warranted to save time and resourcesIII Pedigree 218 Pedigree 218. Solid squares represent schizophrenia as defined by DSM-III-R5; shaded squares, alcohol dependence (DSM-III-R); and asterisk, balanc...

One major determinant of rapid mRNA decay is the presence of AU-rich sequences located in 3′ untranslated regions (UTR). To assess for the contribution of upstream sequences on the activity o the 3′ AU-rich destabilizing element, we have determined the decay-rates of v-/c-fos hybric transcripts by quantitative RNA protection analysis. In a transien...

The present study provides the first direct evidence that cAMP stimulates POMC mRNA accumulation. Thus, prolonged incubation of rat adenohypophysial cells in culture with 8Br-cAMP or with the inhibitor of cAMP phosphodiesterase, IBMX, elevated POMC mRNA levels. Since previous studies have demonstrated that CRF stimulates adenylate cyclase activity...

In cultured rat anterior pituitary cells, the agonist [Asu1,6, Arg8]vasopressin (AVP-A) increased by 1.5-fold 32Pi incorporation into phosphatidic acid (PA), as early as 15 s after its addition. Increased phosphatidylinositol (PI) labeling became significant 4 min after AVP-A addition. Dose-response measurements with AVP-A showed ED50 values of 76...

The effects of luteinizing hormone-releasing hormone (LHRH) and human pancreatic growth hormone-releasing factor (hpGRF(1-40)-NH2) on phospholipid metabolism were studied in rat anterior pituitary cells in primary culture. In a 4-fold enriched population of gonadotrophs, 30 nM LHRH increased 32Pi incorporation into phosphatidic acid (PA) as early a...

This chapter discusses the control of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) secretion. The concept of neurohormonal control of adenohypophysial function can be translated into precise biochemical and chemical terms. Although the influence of the hypothalamus on the secretion of both gonadotropins is probably exerted exclus...

Prostaglandin F2 alpha (PGF 2 alpha) causes a rapid and marked increase of [32P]-orthophosphate incorporation into phosphatidylinositol (PI) and phosphatidic acid (PA) in rat luteal cells in culture. The incorporation of radioactivity is increased as early as 2 and 5 min after PGF 2 alpha addition into PA and PI, respectively, and by 10 min has rea...

Luteinizing hormone-releasing hormone (LHRH) causes a rapid and marked increase of [32P]orthophosphate incorporation into phosphatidylinositol (PI) and phosphatidic acid (PA) in rat luteal cells in culture. The neurohormone exerts its stimulatory effect at an ED50 value of approximately 15 nM. Human chorionic gonadotropin (hCG) has no effect alone...

In order to further investigate the molecular basis for the action of TRH, experiments were performed to examine the ability of rat anterior pituitary cells to incorporate [32P]orthophosphate into phospholipids in response to the neurohormone. Addition of 0.1 microM TRH rapidly stimulates the phosphatidylinositol (PI) response. The incorporation of...

The anterior pituitary gland secretes six known polypeptide hormones: ACTH (adrenocorticotropin), GH (growth hormone), PRL (prolactin), TSH (thyrotropin), LH (luteinizing hormone), and FSH (follicle-stimulating hormone). The rate of secretion of these individual polypeptides is specifically controlled by neurohormones released from the hypothalamus...

Characteristics of the alpha-adrenergic stimulation of ACTH, beta-endorphin + beta-LPH and alpha-MSH release were studied in rat anterior pituitary cells in primary culture. Parallel changes of ACTH, beta-endorphin + beta-LPH and alpha-MSh release were found under all stimulatory and inhibitory conditions by natural and synthetic catecholamine agon...

Characteristics of the α-adrenergic stimulation of ACTH, β-endorphin + β-LPH and α-MSH release were studied in rat anterior pituitary cells in primary culture. Parallel changes of ACTH, β-endorphin + β-LPH and α-MSH release were found under all stimulatory and inhibitory conditions by natural and synthetic catecholamine agonists and antagonists. (−...

The absence of nerve terminals in the anterior pituitary gland offers the possibility of studying a pure population of dopamine (DA) receptors. This study is facilitated by the use of anterior pituitary cells in primary culture, which permit the measurement of a precise parameter under typical dopaminergic control, namely prolactin secretion. On th...

Specific radioimmunoassays (RIAs) for ACTH, beta-endorphin, alpha-MSH and beta-MSH were used to identify the immunoreactive components released during incubation of rat anterior pituitary cells in primary culture. Such measurements were performed after separation of the incubation media by chromatography on Sephadex G-50 or G-75. The ACTH-RIA measu...

The observation of a close parallelism between changes of cyclic adenosine 35 monophosphate (cAMP) accumulation and specific hormone release under the influence of 2 stimulatory hypothalamic hormones thyrotropin-releasing hormone (TRH) and luteinizing hormone-releasing hormone (LHRH) and 1 inhibitory peptide (somatostatin) strongly suggest that the...

Although peripheral hormones have been shown for many years to play a major role in the control of adenohypophyseal activity in man and experimental animals, in vivo approaches could not dissociate between hypothalamic and pituitary sites of action. This area of research vas much facilitated by the development of the pituitary cell culture system (...

Following reports of the presence of endogenous opiate activity in brain (Hughes, 1975; Pasternak et al., 1975; Terenius et al., 1975), the pentapeptide Tyr-GlyGly-Phe-Met (met-enkephalin) has been isolated from porcine (Hughes et al., 1975) and calf (Simantov et al., 1976) brain. The sequence of this peptide is the same as the N-terminus of the C-...

Prior incubation of rat anterior pituitary cells with 17beta-estradiol led to an almost complete reversal of the inhibitory effect of two dopamine agonists, dihydroergocornine and RU 24213, on both basal prolactin release and thyrotropin releasing hormone-induced prolactin release. These experiments thus demonstrate a direct interference of dopamin...

A peptide found in acetic acid extracts of porcine hypothalami and capable of stimulating the release of ACTH in vitro was isolated in pure state, structurally identified as Phe-Leu-Gly-Phe-Pro-Thr-Thr-Lys-Thr-Tyr-Pre-Pro-His-Phe and synthesized. This tetradecapeptide, which corresponds to amino acid residues no. 33–46 in the sequence of the α-chai...

The ergot alkaloid [ 3H]dihydroergocryptine, a potent dopaminergic agonist, has been used to study binding sites in bovine anterior pituitary membranes. One function of the anterior pituitary gland, prolactin secretion, as we show is under typical dopaminergic control and was measured in vitro in another series of experiments using rat anterior pit...

Although sex steroids were known to play a role in the control of LH, FSH, TSH and prolactin secretion, in vivo experiments could not discriminate between hypothalamic and pituitary sites of action. In this study, the specific action of sex steroids at the anterior pituitary level could be achieved using rat adenohypophyseal cells in primary cultur...

This chapter discusses the mechanism of action of hypothalamic hormones in the anterior pituitary gland and specific modulation of their activity by sex steroids and thyroid hormones. Although important information on the role of hypothalamic hormones in the control of anterior pituitary function could be obtained using hypothalamic extracts at dif...