Wilhelm
DG LogoUniversity of Copenhagen
WJC banner
Home
Staff
News
Research
Bioinformatics
Collaborators
Calendar
Courses, symposia, seminars
Publications
Summer School
Travel info
Links
Positions
Internal



Center director:
Prof. Niels Tommerup
tommerup@imbg.ku.dk







Centre contact information

Valid HTML 4.01!

News

Vis nyheder paa Dansk
March 21, 13 WJC establishes semiconductor sequencing
WJC has supplemented our Illumina next generation sequencing (NGS) platform with the latest semiconductor-based NGS-technology, Ion Proton. This will significantly improve the speed and flexibility of the NGS-unit at WJC, and add longer read lengths exceeding 100 bp to our repertoire. The platform will be operational during spring 2013.
January 15, 13 Biobanking: Global genes, local concerns
Members of WJC (Lars Allan Larsen, Klaus Kjær, Niels Tommerup) have been granted an Excellence Programme for Interdisciplinary Research from the University of Copenhagen. The project, Global genes, local concerns headed by the Faculty of Law, and involving partners from the Faculty of Humanities, the Faculty of Health and Medical Sciences and the Faculty of Science, will use different patient cohorts collected by WJC from Denmark, Pakistan, USA and other countries to study the ethical, legal and societal aspects of international biobanking in a university setting. WJC will identify novel disease genes in these cohorts, which will be studied functionally by partners from the Faculty of Science.
January 01, 10 Center for non-coding RNA in Technology and Health
WJC is part of a multidisciplinary and international research programme: Center for non-coding RNA in Technology and Health", funded by the Danish Strategic Research Council for the period 2010-2015. The aim of the project is to assess the biological and morbid potential of the large number of novel non-coding RNA genes which have been discovered recenty. This will be done with a special emphasis on inflammatory disorders such as diabetes. The programme is coordinated by Jan Gorodkin from Section of Genetics and Bioinformatics, LIFE, University of Copenhagen, with Niels Tommerup, WJC, as Chairman of the Scientific Board
October 01, 09 WJC high throughput sequencing as core facility in UNIK programme Food, Fitness and Pharma
"Food, Fitness & Pharma"is a whole new type of research initiative where scientists from the University of Copenhagen join forces in novel, synergy-promoting constellations and interdisciplinary approaches. This initiative involves integration of knowledge from areas such as sociology, psychology, economy, law and food technology with biomedical areas such as genetics, epidemiology, muscle physiology, pharmacology and bariatric surgery – all joined by the common aim to understand, prevent and treat lifestyle diseases". In the UNIK project, supported by a 120 mio. dkr (16 mio Euro) grant from the Danish Ministry of Science, Technology and Innovation, WJC will be supported to establish the infrastructure for optimal usage of the Illumina Genome Analyzer (Solexa) high throughput sequencing platform at the Wilhelm Johannsen Centre for analysis of global gene expression, microRNA expression, DNA methylation and histone modification/chromatin structure and transcription factor binding by UNIK partners.
January 11, 09 EU multicenter project reveal most prevalent cause of idiopathic generalized epilepsy
A microdeletion on chromosome 15 (15q13.3) encompassing the CHRNA7 gene has been shown to be present in ~1% of individuals with idiopathic generalized epilepsy (IGE), and thus to be the most prevalent cause of IGE. The same microdeletion has previously been associated with intellectual disability, autism or schizophrenia, suggesting that CHRNA7 could be one factor behind the frequent comorbidity seen in a range of neurological disorders. The study, published in the prestigious journal Nature Genetics, was the result of a large EU-funded collaboration, EPICURE, where Rikke S. Møller participated from WJC.

Reference:

  • Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41:160-2. PubMed ID:19136953
June 17, 08 High throughput sequencing facility at WJC
WJC has been generously funded by The Lundbeck Foundation to obtain the first second generation version of the Illumina Genome Analyzer GAII, with paired-end facility, in Denmark. With its capacity to sequence close to 100 million clones corresponding to more than 3 billion basepairs in one run, and with the prospects that this capacity will be rapidly expanded, the platform will become a major resource for our future research strategy. Apart from approaching the capacity needed for whole genome sequencing, the potential of the technology for digital expression analysis, resequencing of specific genomic regions and candidate disease genes, rapid mapping of chromosomal breakpoints and genome-wide analysis of DNA methylation, transcription factor binding sites (CHiP-Seq) and other applications where DNA/RNA can be isolated in a biological menaingful way, will be vast. Potential collaborators who want to know more about the possibilites should contact Niels Tommerup.

Publications associated with the high throughput sequencing facility at WJC:

  1. Pasini D, Cloos PAC, Walfridsson J, Olsson L, Bukowski J-P, Johansen JV, Bak M, Tommerup N, Rappsilber J, Helin K. JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature 2010;464:306-10. PubMed ID:20075857
  2. Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MTP, Wang Y, Raghavan M, Campos P, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li X, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre T, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham T, Ramsey CB, Hansen TvO, Nielsen FC, Crawford M, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature 2010;463:757-62 (doi:10.1038/nature08835)
  3. Kleine-Kohlbrecher D, Christensen J, Vandamme J, Abarrategui I, Bak M, Tommerup N, Shi X, Gozani O, Rappsilber J, Salcini AE, Helin K. A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell 2010;38:165-78. PubMed ID:20346720
  4. Boyd M, Hansen M, Jensen TG, Perearnau A, Olsen AK, Bram LL, Bak M, Tommerup N, Olsen J, Troelsen JT. Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2). J Biol Chem. 2010 Jun 15. [Epub ahead of print] PubMed ID:20551321
  5. Wesolowska A, Dalgaard MD, Borst L, Gautier L, Bak M, Weinhold N, Nielsen BF, Helt LR, Nersting J, Tommerup N, Brunak S, Ponten TS, Leffers H, Schmiegelow K, Gupta R. Cost-effective multiplexing before capture allows screening of 25.000 clinical relevant SNPs in childhood acute lymphoblastic leukemia. Leukemia 2011;25:1001-6. PubMed ID:21415851
  6. Skovgaard O, Bak, Løbner-Olesen A, Tommerup N. Genome-wide detection of chromosomal rearrangements, indels and mutations in circular chromosomes by short read sequencing. Genome Res. 2011;21:1388-93. PubMed ID:21555365
  7. Schmitz S, Albert M, Malatesta M, Morey L, Johansen J, Bak M, Tommerup N, Aberrategui I, Helin K. Jarid1b targets genes regulating development and is involved in neural differentiation. EMBO J. 2011;30:4586-4600. PubMed ID:22020125
  8. Halgren C, Kjaergaard S, Bak M, Elschic Z, Anderson C, Kirchhoff M, Hjalgrim H, Bijlsma E, Lecaignec C, Temple K, Mari F, Anderlid BM, Dieux A, Tommerup N, Bache I. Corpus Callosum Abnormalities, Intellectual Disability, Speech Impairment, and Autism in Patients with Haploinsufficiency of ARID1B. Clin Genet. 2012;82:248-255. PubMed ID:21801163
  9. Dietrich N, Lerdrup M, Landt E, Agrawal-Singh S, Bak M, Tommerup N, Södersten E, Hansen K. REST-mediated recruitment of Polycomb Repressor Complex (PRC) 1 and PRC2 in stem cells. PLoS Genet. 2012;8:e1002494. PubMed ID:22396653
  10. Minocherhomji S, Seeman S, Mang Y, El-schich Z, Bak M, Hansen C, Papadopolous N, Nielsen H, Josefsen K, Gorodkin J, Tommerup N, Silahtaroglu A. Sequence and expression analysis of gaps in human chromosome 20. Nucleic Acids Res. 2012 Apr 17. [Epub ahead of print]. PubMed ID:22510267
  11. Halgren C, Bache I, Bak M, Anderson CM, Brøndum-Nielsen K, Tommerup N. Haploinsufficiency of CELF4 at 18q12 is associated with developmental and behavioural disorders, seizures, eye manifestations, and obesity. Eur J Hum Genet. 2012;20:1315-9. PubMed ID:22617346
  12. Podolska A, Anthon C, Bak M, Tommerup N, Skovgaard K, Heegaard PM, Gorodkin J, Cirera S, Fredholm M. Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae. BMC Genomics. 2012;13:459. PubMed ID: 22953717
May 13, 08 WJC pictures on the front page of Nature Protocols
This week the front page of Nature Protocols display pictures from the October 11, 2007, WJC-publication by Silahtaroglu et al. describing a method for fast and effective detection of miRNAs in frozen tissue sections by fluorescence in situ hybridization (FISH).

Reference:

  • Silahtaroglu AN, Nolting D, Dyrskjøt L, Berezikov E, Møller M, Tommerup N, Kauppinen S. Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nature Protocols 2007;2:2520-28 Online journal
May 01, 08 Mutation of the Down syndrome candidate gene DYRK1A result in microcephaly
The gene DYRK1A encode a highly conserved dual-specificity tyrosine phosphorylation-regulated kinase. It is localized on chromosome 21, within both the Down syndrome critical region and in the minimal region for partial monosomy 21. Thus, DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. By confirming that inactivating mutations of DYRK1A result in a clinical phenotype including microcephaly, an international study led by WJC highlight the importance of a correct dosage of DYRK1A for normal brain development. The result was published in the prestigious American Journal of Human Genetics.

Reference:

  • Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet. 2008;82:1165-70.PubMed ID:18405873
March 26, 08 LNA-mediated microRNA silencing as a promising novel therapeutic principle
microRNAs (miRNAs) are small regulatory RNAs that may represent a potential new class of targets for therapeutic intervention. A group headed by Sakari Kauppinen from the Danish Biotech company Santaris Pharma and Wilhelm Johannsen Centre for Functional Genome Research, has shown that a simple systemic delivery of locked-nucleic-acid-modified oligonucleotide (LNA-antimiR) effectively antagonizes the liver-expressed miR-122 in non-human primates, without any evidence for LNA-associated toxicities or histopathological changes. The treatment was accompanied by depletion of mature miR-122 and dose-dependent lowering of plasma cholesterol. The study was published in Nature. It is also part of a MicroRNA Collection which showcases the latest papers from Nature that explore the biogenesis, biological effects in both normal and diseased cells, and therapeutic potential of miRNAs.

Reference:

  • Elmén J, Lindow M, Schütz S, Lawrence M, Petri M, Obad S, Lindholm M, Hedtjärn M, Hansen HF, Berger U, Gullans S, Kearney P, Sarnow P, Straarup EM, Kauppinen S. LNA-mediated microRNA silencing in non-human primates. Nature 2008;452:896-9.PubMed ID:18368051
  • Citation in Drugs.com
March 01, 08 Blue eye color in humans caused by a founder mutation
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. Genetic analysis of a large Danish family show that the blue eye color is perfectly associated with a SNP, rs12913832, located in a highly conserved element in intron 86 of the neighbouring gene HERC2. Functional analyses indicated that the element significantly reduces the activity of the OCA2 promoter. The brown eye color allele of rs12913832 is highly conserved throughout a number of species, suggesting that brown eye color is the original eye color. Since the same haplotype represented by six polymorphic SNPs was found in all tested blue-eyed individuals from Denmark, Turkey and Jordan, the human blue eye color may be due to a common founder mutation in an OCA2 inhibiting regulatory element. Thus, all blue eyed individuals may be related by descent. The study, headed by Hans Eiberg from the University of Copenhagen and with participation of Klaus Kjaer and Lars Hansen from the Wilhelm Johannsen Centre, has received worldwide attention in the media.
  • See CBS News from February 7, 2008.

    Reference:

    • Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet. 2008;123:177-187. PubMed ID:18172690
  • October 11, 07 Detection of microRNAs in frozen tissue sections
    The ability to determine spatial and temporal microRNA (miRNA) accumulation at the tissue, cell and subcellular levels is essential for understanding the biological roles of miRNAs and miRNA-associated gene regulatory networks. In the latest number of Nature Protocols a research group led by Asli Silahtaroglu at the Wilhelm Johannsen Centre for Functional Genome Research describe a method for fast and effective detection of miRNAs in frozen tissue sections using fluorescence in situ hybridization (FISH). The method combines the unique miRNA recognition properties of locked nucleic acid (LNA)-modified oligonucleotide probes with FISH using the tyramide signal amplification (TSA) technology. Although both approaches have previously been shown to increase detection sensitivity in FISH, combining these techniques into one protocol significantly decreases the time needed for miRNA detection in cryosections, while simultaneously retaining high detection sensitivity. Starting with fixation of the tissue sections, this miRNA FISH protocol can be completed within approximately 6 h and allows miRNA detection in a wide variety of animal tissue cryosections as well as in human tumor biopsies at high cellular resolution.

    Reference:

    • Silahtaroglu AN, Nolting D, Dyrskjøt L, Berezikov E, Møller M, Tommerup N, Kauppinen S. Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nature Protocols 2007;2:2520-28 Online journal
    October 01, 07 The common pericentric inversion on chromosome 2 is a recurrent rearrangement
    The frequently observed pericentric inversion inv(2)(p11.2q13) is considered phenotypically silent and a polymorphic variant. An international group including Zeynep Tümer from WJC has identified four different breakpoint combinations in 40 inversion carriers of European origin. In the majority of inversions (35/40), the breakpoints occurred within the same regions on 2p and 2q which were enriched for intrachromosomal segmental duplications in the reciprocal breakpoint regions. Combined with haplotype analyses, the study revealed that the majority of inversions have arisen independently in different ancestors, while a minority either have been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level. Thus, inv(2) differs from the inv(10) which is a founder mutation (WJC publication No. 91: Gilling et al. 2007).

    Reference:

    • Fickelscher I, Liehr T, Watts K, Bryant V, Barber JCK, Heidemann S, Siebert R, Hertz JM, Tumer Z, Thomas NS. The Variant inv(2)(p11.2q13) is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity. Am J Hum Genet 2007;81:847-56. PubMed ID:17847011
    June 13, 07 The Congenital Cataract Mutation Database (CCMD)
    Inherited congenital cataract (CC) represent a major genetic cause of blindness. A large genetic mutation study at WJC has added more than 15 new mutations to the list of known CC mutations (in publication). Cataract associated genes includes alpha-, beta- and gamma crystallins, gap junction proteins and members of the heat shock family plus several lens specific transcription factors. In total more than 50 different known mutations in 20 genes are associated with the cataract phenotype, illustrating the extreme clinical and genetic heterogeneity. CCMD is a Web-based database that gives a comprehensive overview of the large number of mutations within the known cataract genes published in the scientific literature during the last decade. The systematic nomenclature for genes and mutations are linked to the cataract phenotype and additional ocular phenotypes. CCMD , hosted by the Wilhelm Johannsen Centre for Functional Genome Research, will be updated regularly.

    March 07, 07 Systems Biology: Integration of Phenome with Interactome predicts novel disease genes
    Many genetic disorders can be caused by defects in different genes (genetic heterogeneity), suggesting that the encoded proteins could be involved in similar biological processes. Likewise, molecular characterization of different disorders but with overlapping symptoms support that the involved proteins may participate in the same biological pathway or otherwise interact biologically. In the March 2007 issue of Nature Biotechnology researchers from Wilhelm Johannsen Centre for Functional Genome Research (WJC) and Center for Biological Sequence Analysis, Technical University of Denmark (CBS), combine protein-protein interaction data derived from all species (The Interactome) with a phenotypic network (The Phenome) based on text mining of the existing literature on genetic disorders. More than 500 protein complexes involved in human genetic diseases is presented in the paper. The Interactome-Phenome platform was used to predict a ranked list of over 100 novel candidate disease genes within established linkage intervals, including candidate genes for ovarian cancer, type 2 diabetes and cardiovascular disorders.

    This collaborative project between WJC and CBS was established in 2003. See previous news on this project

    Reference:

    • Lage K, Karlberg EO, Størling ZM, Ólason PI, Pedersen AG, Rigina O, Tümer Z, Pociot F, Tommerup N, Moreau Y, Brunak S. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nature Biotechnology 2007;25:309-16.
    February 22, 07 Mutations in the BCS1L gene as a cause of the Bjornstad syndrome
    The Björnstad syndrome is an autosomal recessive disorder associated with sensorineural hearing loss and pili torti. An international team which included Lisbeth Tranebjærg from WJC have by a systematic mapping and sequencing effort identified mutations in the BCS1L gene which encodes a member of the AAA family of ATPases that is necessary for the assembly of complex III in the mitochondria. The discovery, published in the prestigious New England Journal of Medicine, reveal how BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Björnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome). Mutations that cause the Björnstad syndrome illustrate the exquisite sensitivity of ear and hair tissues to mitochondrial function, particularly to the production of reactive oxygen species.

    Reference:

    • Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med 2007;356:809-19. PubMed ID:17314340
    January 09, 07 Autism susceptibility 2 gene (AUTS2) is a novel mental retardation gene
    AUTS2 at 7q11.2, coined so by a previous report of truncation by a translocation in twins with autism and mental retardation (MR), was found to be truncated by three de novo translocations from Denmark, Germany and Scotland. The patients showed varying degrees of MR, but no autism. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe MR. The function of AUTS2 is presently unknown. Given the overlap of this autism/MR phenotype and the MR-associated disorders in our patients, AUTS2 mutations are linked to autosomal dominant mental retardation.

    Reference:

    • Kalscheuer VM, Fitzpatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007 Jan 9; [Epub ahead of print] PubMed ID:17211639
    May 01, 06 The common inversion 10 is a founder mutation
    The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. In an interantional collaboration headed by phd-student Mette Gilling from WJC, the inversion breakpoints on 10p11 and 10q21 were characterized. Carriers from 20 apparently unrelated inv(10) families had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.

    Reference:

    • Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS. Breakpoint cloning and Haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet. 2006;78:878-83. PubMed ID:16642442
    April 01, 06 Translocations may be a gold-mine for finding genes associated with late onset disorders
    Balanced reciprocal translocations associated with genetic disorders have facilitated the identification of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated with common and complex disorders. Scientists at WJC have looked at the full spectrum of diseases in 731 carriers of balanced reciprocal translocations without known early-onset disorders in a nation-wide questionnaire-based re-examination. In 42 families, one of the breakpoints at the cytogenetic level concurred with known linkage data and/or the translocation co-segregated with the reported phenotype. Thus, a significant linkage of dyslexia and a co-segregating translocation was found in a chromosomal region known to carry a dyslexia locus. We identified 441 instances of at least two unrelated carriers with concordant breakpoints and traits. The study show that a similar systematic re-examination of translocation carriers should be done in other populations. This vast material will form the basis for molecular studies at national and international level in a variety of disorders.

    Reference:

    • Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet. 2006;14:410-7. PubMed ID:16493440
    December 01, 05 SILencing misbehaving proteins: Mutations in SIL1 causes Marinesco-Sjogren syndrome
    Marinesco-Sjogren syndrome is characterized by cerebellar ataxia, progressive myopathy and cataracts. Published in the prestigious Nature Genetics, loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5, was found to cause the syndrome by an international team which included Lisbeth Tranebjærg from WJC. This suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.

    Reference:

    • Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005;37:1309-11 PubMed ID:16282978
    May 26, 05 MicroRNA regulatory pathways - a novel link to developmental and chromosomal disorders?
    MicroRNA (miRNA) genes constitute a novel class of small RNA molecules that regulate the activity of other genes by repression of translation or mRNA degradation. Each miRNA may have hundreds of specific targets, which can be predicted by sequence homology. A knowledge of the tissue in which each miRNAgene is active could therefore be used to link these novel regulatory pathways with specific developmental disorders and chromosomal rearrangements associated with abnormal phenotypes. A Science paper entitled "MicroRNA Expression in Zebrafish Embryonic Development" from Ronald H. Plasterk's group at the Hubrecht Laboratory, Centre for Biomedical Genetics, Utrecht, the Netherlands, Robert Horvitz’ lab at Howard Hughes Medical Institute, MIT, USA and Sakari Kauppinen, visiting scientist at WJC, describe the temporal and spatial expression patterns of 115 conserved vertebrate microRNAs in zebrafish embryos revealed by in situ hybridizations, using the Danish Biotech Company Exiqon's miRCURY detection probes. These results represent the first comprehensive atlas of miRNA expression patterns in vertebrate development.

    Reference:

    • Wienholds, E., Kloosterman, W.P., Miska, E., Alvarez-Saavedra, E., Berezikov, E., de Bruijn, E., Horvitz, R.H., Kauppinen, S. and Plasterk, R.H.A. 2005. MicroRNA expression in zebrafish embryonic development. Science, in press; ScienceExpress 26.5.2005. PubMed ID:15919954
    • Et landkort med zebrafiskens celler. Politiken, lørdag d. 28. maj 2005. 1. sektion, side 5.
    April 07, 05 WJC paper "Editors Choice" in Journal of Medical Genetics
    This months ”Editors Choice" in Journal of Medical Genetics is a paper demonstrating that Ectrodactyly, Ectodermal dysplasia and Macular dystrophia is caused by mutations in the p-cadherin (CDH3) gene. The mutations were detected in two large families from Denmark and Brazil. This is the third known gene in which mutations causes ectrodactyly. The CDH3 protein is known to be involved in contact between cells, and the discovery establishes a novel role for CDH3 in the development of the hand. The Danish family was initially reported in 1956, and it could be traced through the extensive genetic archives at the University of Copenhagen. The study was headed by ph.d.-student Klaus Kjær from WJC.

    Reference:

    • Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005 Apr;42(4):292-8. PubMed ID:15805154
    March 31, 05 Mette Warburg - Danish grand lady in ophthalmogenetics - honored by novel discovery
    Mette Warburg, famous Danish ophthalmologist and geneticist, has characterized many novel syndromes affecting the eyes. In the March issue of Nature Genetics the first gene involved in Warburg microsyndrome (WARBM1) is reported. Mette Warburg described this syndrome affecting the eyes, brain and genitalia in 1993. The international research team, headed by scientists from UK, included Mette Warburg and ph.d.-student Klaus Kjær from the Wilhelm Johannsen Centre. Most cases of Warburg microsyndrome are caused by mutations in the RAB3GAP gene located on chromosome 2. RAB3GAP codes for RAB3 GTPase activating protein which is involved in secretion of neurotransmitters and hormones. The discovery may shed light on novel roles of neurotransmitters and hormones in the development of the affected organs.
    Furthermore, the genetic analyses indicated that there must be at least one more gene involved in Warburg microsyndrome.

    References:

    • Warburg, M.; Sjo, O.; Fledelius, H. C.; Pedersen, S. A. : Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am. J. Dis. Child. 147: 1309-1312, 1993. PubMed ID : 8249951
    • Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar;37(3):221-3. PubMed ID:15696165
    January 27, 05 WJC/CBS master student winner at the annual Novo Scholarship Symposium
    Novo Nordisk and Novozymes offer scholarships to support graduate training of some of the best students in biotechnology and pharmaceutical sciences, including bioinformatics, molecular biology, microbiology, medicinal chemistry, pharmacology, pharmacy, drug delivery at Danish Universities and Lund University. At the Annual Novo Scholarship Symposium where more than 100 master students presented posters, ten students were selected to present their work orally, including Kasper Lage Hansen (KLH) who eventually won the first price. KLH talked about his project “Integrative disease gene finding using protein-protein interaction networks” which was supervised jointly by Søren Brunak, Center for Biological Sequence Analysis at DTU and Niels Tommerup from WJC.
    March 31, 03 P.A.L.M. Laser Capture Microdissection Microscope
    By generous funding from The John and Birthe Mayer Foundation, WJC has in collaboration with Department of Oto-Rhino-Laryngology, Head and Neck Surgery, Rigshospitalet, established a facility for laser capture microdissection, based on a P.A.L.M. Laser Capture Microdissection Microscope. The system, situated at WJC, will be used for tissue specific isolation of RNA for gene expression and for isolation of single chromosomes for mapping of chromosomal rearrangements.