Extractions: MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References . Arbour,N.C., Zlotogora,J., Knowlton,R.G., Merin,S., Rosenmann,A., Kanis,A.B., Rokhlina,T., Stone,E.M., and Sheffield,V.C. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 1997; Hum.Mol.Genet. 6: 689-694. Goto Top . Kohl,S., Baumann,B., Broghammer,M., Jagle,H., Sieving,P., Kellner,U., Spegal,R., Anastasi,M., Zrenner,E., Sharpe,L.T., and Wissinger,B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 2000; Hum.Mol.Genet. 9: 2107-2116.
COS Expertise Profile Canine CNGB3 mutations establish cone degeneration as orthologous tothe human achromatopsia locus ACHM3. Human Molecular genetics. http://myprofile.cos.com/ostrander1
Extractions: Qualifications Ph.D., Oregon Health Sciences University, Microbiology and Immunology, 1987 Expertise and Research Interests Dr. Elaine Ostrander's laboratory is interested in mapping and characterizing genes responsible for inherited disease in both dogs and humans. We are using three approaches. First, we are developing a canine genome map, and have used that map to identify genes which predispose naturally occurring populations of dogs to inherited disease. Second, we are screening two large cohorts of women with breast cancer to determine the distribution and frequency of mutations in the BRCA1 and BRC2 genes. Third, we have undertaken a genome-wide scan of high risk prostate cancer families to identify prostate cancer predisposition loci. Our recent efforts in mammalian genomics have focused on the development of the canine map. We constructed the first meiotic linkage map of the dog, and most recently have worked on the development of a high density canine radiation hybrid map, producing a 1500 marker radiation hybrid map in October 2001. Together with collaborators we have unraveled the evolutionary relationship between the canine and human genomes and developed an 1800 marker integrated cytogenetic, meiotic linkage, and radiation hybrid map that aligns the canine and human genomes. We are currently working towards completion of a 3400 marker map.
Extractions: References 1. Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., and Wissinger, B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257 - 259.
Bibliografi-artiklar W. Polland, «Different expressions of one gene for congenital achromatopsia withamblyopia a homozygous father with 11 children.» In Clinical genetics 18/1980 http://www.ddb.umu.se/forskning/bibliografi/artiklar.htm
Extractions: Journal of Family History, vol. 14, no. 3, 1989. Human Genetics , vol. 94, 1994, p. 124-128. Historical Methods Summer 1985. Volume 18, no. 3, p. 117-119. Bengtsson, Magdalena, "The Interpretation of Causes of Death among Infants". In Hygiea Internationalis vol 2, no 2 2002, 53-73. Abstract Journal of Neurology, Neurosurgery and Psychiatry, vol. 57, no. 4, 1994, p. 497-499. Clinical Genetics 21 Scandinavian Journal of Statistics , vol. 14, no. 2, p. 113-123, 1987. Journal of Tropical Pediatrics, DFI Tre kulturer. 3-4/1985, s. 148-168. Historisk Tidskrift, Socialmedicinsk Tidskrift Social History of Medicine, The History of the Family vol 1 no 2 1996. Abstract Individ och struktur i historisk belysning. Festskrift till Sune Åkerman. Umeå 1997, s.3.
Pina, Mol Vis 2004; 10:265-271. Montreal, Canada; 2 Department of Orthodontics, Craniofacial genetics, UniversityClinic Recently achromatopsia has been associated with mutations in this gene http://www.molvis.org/molvis/v10/a34/
Extractions: McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University, Montreal, Canada; Department of Orthodontics, Craniofacial Genetics, University Clinic of Regensburg, Germany Correspondence to: Dr. Robert Koenekoop, Ophthalmology, Montreal Children's Hospital, 2300 Tupper, Montreal, PQ, Canada, H3H 1P3; Phone: (514) 412-4400, ext. 22891; FAX: (514) 412-4443; email: robert.koenekoop@muhc.mcgill.ca Abstract Purpose: ) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene. Cone and cone-rod dystrophies are a genetically heterogeneous group of photoreceptor diseases, in which mutations of a single gene may cause a variety of phenotypes. In this study we tested the hypothesis that mutations in cause cone-rod degeneration (CRD). Methods: PCR-SSCP and heteroduplex analysis combined with automated sequencing was used for mutation detection in in 13 independent pedigrees with CRD. We used co-segregation analysis to establish or reject causation, when possible. Molecular computer modeling was utilized to examine the possible consequences of mutations onto GNAT2 protein structure. Results: We found a novel 3 base-pair deletion, predicted to cause the loss of a highly conserved lysine at position 270 (K270del) in a French-Canadian CRD pedigree. We detected this deletion in a CRD proband, but also in his unaffected son, the proband's unaffected father and the proband's unaffected brother. However, we did not find this defect in 12 other CRD pedigrees, nor in 100 normal, culturally matched chromosomes. According to literature and our molecular computer modeling, the K270 plays an important role in securing the guanine ring in the nucleotide binding cleft of the molecule and in creating a salt bridge between the helical and GTPase domains of GNAT2. However, the K270del in GNAT2 does not appear to have extensive consequences to the structure and the function of the GNAT2. Apparently, there is a compensatory effect of lysine (K-271), which forms a hydrogen bond with the N1 ring nitrogen substituting for the loss of the lysine at position 270.
ICVS Daltoniana February 2001 MOLECULAR genetics. Complete achromatopsia is a rare, autosomal recessive disordercharacterized by photophobia, low visual acuity, nystagmus and a total http://orlab.optom.unsw.edu.au/ICVSFolder/Daltoniana.Feb01.html
Extractions: Abstracts President General Secretary Ken Knoblauch Treasurer Ted Sharpe Membership Secretary Anne Kurtenbach Daltoniana Editor Stephen Dain Proceedings Editors Dick Cavonius Ken Knoblauch, Barry Lee and Joel Pokorny Committee Jenny Birch Dick Cavonius , Stephen Dain Kenji Kitahara ... Eberhart Zrenner My 4 year term as General Secretary will be up in 2001. It is time to consider nominations for this post as well as for the Board of Directors. Nominations will be accepted at the Business meeting in Cambridge and voting will be by mail ballot, as usual. See you there. ICVS Meeting 2001 (web page http://www.icvs2001.org.uk/)
Re: Experience With Bcm of blue cone monochromacy, I refer them to the section on genetics in the book thatI make available for members of the achromatopsia Network (Understanding http://www.yandle.com/bcm/_disc/00000028.htm
Science Abstracts Eudy Et Al. 280 (5370) 1753 NEW EMBO MEMBER S REVIEW On the genetics of retinitis pigmentosa and on cone photoreceptorcGMPgated channel are responsible for achromatopsia (ACHM3) linked http://www.sciencemag.org/cgi/content/short/280/5370/1753?ck=nck
J Med Genet -- Collected Resources : Genetics Online mutation reports achromatopsia caused by novel mutations in both CNGA3 ReviewsReferral for cancer genetics consultation a review and compilation of http://jmg.bmjjournals.com/cgi/collection/genetics?page=8
J Med Genet -- Sign In Page Eur J Hum Genet 2002;1063842.CrossRefMedline; Kohl S, Jägle H,Zrenner E, Sharpe LT, Wissinger B. The genetics of achromatopsia. http://www.jmedgenet.com/cgi/content/full/41/2/e20
Extractions: Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$8.00. SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$25.00. Regain Access - You can regain access to a recent Pay per Article or SitePass purchase if your access period has not yet expired.
Bmj.com Collected Resources : Genetics Journal of Neurology, Neurosurgery, and Psychiatry, Journal of Medical genetics,Journal of Short reports Mapping of a novel locus for achromatopsia (ACHM4) to http://bmj.bmjjournals.com/cgi/collection/genetics?notjournal=bmj&page=91
Achromatopsia This is called recessive inheritance. This is only a brief summary of thegenetics of achromatopsia. There are exceptions to these general rules. http://www.ssc.mhie.ac.uk/eyeconds/Achro.htm
Extractions: Scottish Sensory Centre Medical Information on Achromatopsia For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.
Applied Biosystems - BioBeat - Suite Of Applied Biosystems Products of hereditary total color blindness (achromatopsia) that afflicts a significant portion identified the achromatopsia gene on chromosome 2 (CNGA3) in 1998 Nature Genetics19257259 http://www.appliedbiosystems.com/biobeat/colorblind
Publication List For Suzanne M. Leal, Ph.D. BL, Salam AA, Leal SM, Karayiorgou M (1999) Homozygosity mapping of the achromatopsialocus in the Pingelapese. American Journal of Human genetics 6416791685 http://linkage.rockefeller.edu/suzanne/pub.html
Extractions: Research Articles updated 6/7/02 DeWan AT, Parrado AR, Matise TC, Leal SM (2002): The map problem: a comparison of genetic and sequence-based physical maps. American Journal of Human Genetics Abstract Article Wessman M, Kallela M, Kaunisto M, Marttila P, Sobel E, Hartiala J Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T , Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L, Palotie A (2002): A susceptibility locus for migraine with aura on chromosome 4q24 revealed by genome-wide screen in Finnish families. American Journal of Human Genetics Abstract Article Chen ACH, Laforge KS, Ho A, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ (2002): A potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse American Journal of Medical Genetics Abstract Cigler T, LaForge KS, McHugh PF, Kappadia SU, Leal SM, Kreek MJ (2001): Novel and previously identified single nucleotide polymorphisms in the human 5-HT1B receptor gene:no association with cocaine or alcohol abuse/dependence. American Journal Medical Genetics Abstract Article Wille A, Leal SM (2001): Novel selection criteria for genome scans of complex traits.
Achromatopsia; Treatment, Prevention, Cure achromatopsia Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories http://www.healthlinkusa.com/content/2.html
Blindness Color Inheritance Redgreen color blindness. Red-green color http//www.chp.edu/greystone/genetics/xlink.phpAchromatopsia and Color Blindness http://101investor.com/z/retirement-planning/blindness-color-inheritance.html
Genetic Disorders of Genetic Disorders Also consult your textbook, Applied genetics, Chapter 27 AchromatopsiaAchromatopsia Home Page one-stop shopping for information on this http://www.wtps.org/wths/imc/Teacher_Assignment/science/ferri genetic disorders.
Cambridge Veterinary School: Research: Genetics CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsialocus ACHM3. Animal genetics in Press; Borg I, Squire M, Menzel C, Stout K http://www.vet.cam.ac.uk/research/genetics.html
Extractions: The domestic dog shows varieties of body size and of anatomical conformation greater than those seen in any other mammalian species, often combined with considerable heritable differences in behaviour patterns. A corollary of phenotypic variation has been the recognition of more naturally occurring inherited diseases in dogs than have been catalogued in any other species apart from man. These diseases are responsible for differences in average age at death of up to 50% between different breeds of dog, and cause considerable morbidity and suffering to affected animals. The development of a comparative genetic map showing the relationship between human and canine chromosomes. In collaboration with Dr Fengtang Yang and other members of the Molecular Cytogenetics Laboratory we have used reciprocal chromosome painting techniques to demonstrate the relationship between the two karyotypes. We have extended this study by using PCR to confirm the location of genes within particular canine chromosomes. We are now developing cross-species genomic array methods to establish synteny to a few hundred thousand base pairs.
GENETICS 20133 Milano. Italy. labanof@tin.it. OC5 DAY FRIDAY 8 th TIME10.2510.35 CENTRALACHROMATOPSIA AFTER WHIPLASH INJURY. Grimaldi L. Instituto di Medicina Legale. http://www.usc.es/imlus/doc/oral.htm
Extractions: Authors are requested to contact the slide check-in centre at least 15 min before presentation. Facilities for double projection, overhead projections and power point presentations will be provided. The Congress will be held in the Faculty of Medicine (c/San Francisco s/n) Santiago de Compostela. The registration desk will be open from Tuesday, 5th at 16.00. Prof. Angel Carracedo OG1 DAY: THURSDAY 7 th TIME: 9.45-9.55 MEGAPLEX ANALYSIS OFICED HUMAN REMAINS FROM THE BERREL SITE (200-300 BC, KAZAKHSTAN) Clisson I, Keyser C, Francfort H.P, Crubezy E, Ludes B Inl@iml-ulp.u-strasbg.gc OG2 DAY: THURSDAY 7 th TIME: 9.55-10.05 MtDNA MUTATIONS IN PEDIGREES FROM THE ELEVATED NATURAL RADIOACTIVITY AREAS OF KERALA Forster L, Brinkmann B Apimllar@uscmail.usc.es
