|
ESF
& ICGEB Joint Workshop:
The pathology of pre-mRNA splicing: diagnostic and mechanistic
aspects
7-9
April
2005
Trieste,
Italy
Organisers:
Francisco
E. Baralle, ICGEB Trieste, Italy
Franco Pagani, ICGEB Trieste, Italy
Report
Summary
The
joint ESF and ICGEB workshop "The pathology of pre-mRNA
splicing: diagnostic and mechanistic aspects" took place
in Trieste, Italy April 7-9, 2005 and saw a total of 75 participants
from 23 countries and 11 faculty members. The workshop has
provided a unique forum for experts and students, mostly young
researchers, to meet and investigate the connection between
research in different pre-mRNA processing and human molecular
genetics. The basic idea of the workshop was to establish
a fruitful exchange of ideas and experience between researchers
in "basic splicing" and researchers in "human
genetics". In fact, disease-causing mutations that unexpectedly
affect splicing may lead to discovery of new basic processes
and on the other hand the deep knowledge of the basic process
may explain and predict the effect of a mutation on splicing.
These aspects were full investigated through a total of 26
scientific presentations (13 from the faculty and 13 from
participants) over the three-day period. The presentations
covered the basic mechanism in pre mRNA processing and the
impact of splicing defects in human pathology. The role of
splicing pathology was addressed in several human diseases
including Cystic fibrosis, Spinal Muscular Athrophy, Ataxia
telangectasia, Muscular dystrophy, Neurofibromatosis. To stimulate
discussion, the faculty members made a general overview followed
by the presentation of novel data. The majority of presentations
and relevant scientific publications were available to download
for the participants on a dedicated web site.
Scientific
Content
The
scientific content of the meeting opened with a first session
to address current knowledge and open questions on the basic
mechanisms of pre mRNA processing, which are relevant in human
pathology. Adrian Krainer, (Cold Spring Harbour Laboratory,
New York, Usa) evaluated the determinant and complexity of
exon identity in the splicing muscular atrophy genes SMN1
and SMN2. After an overview on human proteins involved in
the two catalytic steps of splicing and on the regulation
of alternative splicing he showed new insight on the specificity
in the recognition of exonic splicing enhancer and silencer
elements. In particular he focused on the mechanisms by which
single point mutations in exons result in exon skipping, leading
to many genetic diseases and on dedicated computer programs.
Chris Smith (University of Cambridge, UK) has analyzed the
mechanism of regulation of alternatively spliced exons with
distant branch sites and Benoit Chabot (Universite de Shrerbrooke,
Canada) the control of alternative splicing in apoptotic genes.
The multiple roles of Arginine/serine -rich splicing factors
in RNA processing were evaluated by Javier Caceres (Western
General Hospital, Edinburgh, UK). The Ser-Arg-rich (SR) proteins
comprise a large family of nuclear phosphoproteins that are
required for constitutive and alternative splicing. A subset
of SR proteins shuttles continuously between the nucleus and
the cytoplasm, suggesting that the role of shuttling SR proteins
in gene expression may not be limited to nuclear pre-mRNA
splicing, but may also include unknown cytoplasmic functions.
He shows that SR proteins associate with translating ribosomes
and stimulate translation both in vivo and in vitro. The production
of functional messenger RNA in eukaryotes requires not only
transcript synthesis by RNA polymerase II (Pol II) but also
multiple RNA-processing steps such as capping, splicing, polyadenylation,
and RNA editing. Recent research has shown that many of these
processing steps occur cotranscriptionally, revealing a close
association (coupling) between transcription and mRNA processing.
Alberto Kornblihtt (University of Buenos Aires, Argentina)
has analyzed the influence of transcriptional elongation on
splicing patterns across larger genes. He presented evidence
of a polar effect for alternative splicing. It appears that
the inclusion of an upstream alternative exon enhances the
subsequent inclusion of a downstream alternative exon in the
same nascent transcript. This exciting development could open
the way to understand how remote alternative splicing events
might be coordinated within the same transcript, possibly
through interactions that occur during elongation. The interconnections
between transcription and mRNA processing was further analyzed
by Nick Proudfoot (University of Oxford, UK) showing new insights
into this coupling process between mRNA 3'___ end processing
and polyadenylation. Depletion of a nuclear 5'-3'___ exonuclease
(Xrn2 in human cells) causes a clear termination defect, and
the exonuclease acts like a molecular torpedo by attaching
to the 5'___ end of the nascent RNA generated by cleavage
either at the poly(A) signal or at cotranscriptional cleavage
sites. A general overview and the genetic programs of alternative
splicing with a focus on splicing regulatory factors that
assist in the recognition of the 5' splice was done by J.Valcarcel
(ICREA Barcelona, Spain). The role of RNA secondary structure
determinant and the methods to detect changes in secondary
structure due to mutations were analyzed by E. Buratti (Molecular
Pathology, ICGEB, Trieste, Italy) providing interesting examples
in CFTR and ATM genes. The second part of the meeting was
mainly dedicated to the impact of splicing defects in human
pathology. F.E. Baralle (Molecular Pathology, ICGEB, Trieste,
Italy) provided new insight on the mechanism that cause aberrant
splicing of CFTR exon 9 associated to classic and non-classic
forms of Cystic Fibrosis due to unfavorable polymorphic TGmTn
repeats in intron 8 and on splicing diagnostic tools. Among
the multiple regulatory cis and trans acting elements that
influence CFTR exon 9 splicing, the interaction of splicing
factor TDP43 with the polymorphic UG repeats in intron 9 at
the 3' splice site was shown to be critical for its definition.
Additional data on CFTR splicing and associated CF syndromes
was provided by F Pagani, Human Mol Genet, ICGEB, Trieste,
Italy) and by Thilo Doerk (Hannover Medical School, Gernany)
that evaluated the effect of synonymous mutations on splicing
and the identification of disease causing mutations in genomic
screening, respectively. Potential applications and limitations
of currently available in vitro and in vivo splicing diagnostic
tolls were discussed.
T. Cooper (Baylor Collage of Medicine, Houston, USA) illustrated
the inactivation of splicing regulators in Myotonic Dystrophy
caused by a CTG expansion in the 3' untranslated region of
the DM protein kinase. The mechanism by which CUG repeats
RNA induces disease is an RNA gain of function that involves
CUG - repeats binding proteins. The presentation focused on
the effect of these CUG binding proteins on multiple splicing
events providing new insight of explain their role in the
pathogenesis of the disease. The role of alternative splicing
regulation in cancer was evaluated by L.M. Montuenga, (University
Navarra, Spain) that presented an extended analysis of hnRNPs
expression in lung cancers and by G Biamonti, (CNR, Pavia,
Italy) with a molecular study on the regulation of the Ron
proto-oncogene. The role of chaperoning snRNP biogenesis in
SMA was evaluated by L. Pellizzoni (Dulbecco Institute, Rome,
Italy) and its relevance in Spinal Muscular Atrophy.
Several examples of unexpected splicing mutations along with
mechanistic insights and diagnostic aspects were provided
by several presentations from the participants. In particular,
C. Lazaro (CGMM, Barcelona Spain) showed that a significant
amount of mutations in the NF1 gene (missense, nonsense or
even synonymous) cause unexpectedly a splicing defect, pointing
to a better definition of the mechanism by which mutations
in a gene cause the disease. New aberrant splicing events
were described in ATR, SBCAD, Fanconi anemia and Prader-Willy
syndrome by P. Madsen (Aahaus University, Denmark), K. Neveling
(University of Wuerzburg, Germany) and S. Stamm (Institute
of Biochemistry, University of Erlangen, Germany), respectively.
Interestingly, in the Prader-Willy syndrome a regulation of
alternative splicing by snoRNA was shown to be involved. New
strategies to correct splicing defects were discussed in several
presentations during the meeting such as the use of ESSENCE
compounds developed by A. Krainer to rescue exon skipping
or modified oligonucleotides by Chabot. Three presentations
from M. Asparuhova, (University of Bern, Switzerland), A Aartsma-Rus
(Leiden University Medical Centre, The Netherlands) and M.
Nissim-Rafina (The Hebrew University, Jerusalem, Israel) discussed
specific strategies to correct splicing in HIV, Duchenne Muscular
Dystrophy and CFTR using small nuclear RNAs, antisense oligonucleotides
and splicing factor modulation, respectively.
Faculty
G.
Biamonti (Istituto di Genetica Biochimicaed Evoluzionistica-CNR,
Pavia, Italy)
J. F. Caceres (Western General Hospital, Edinburgh, UK)
B. Chabot (Université de Sherbrooke, Québec,
Canada)
T. A. Cooper (Baylor College of Medicine, Houston, Texas)
A. R. Kornblihtt (Universidad de Buenos Aires, Argentina)
A. Krainer (Cold Spring Harbor Laboratory, NewYork, USA)
L. Pellizzoni (Dulbecco Telethon Institute at the Institute
of Cell Biology-CNR, Rome, Italy)
N. J. Proudfoot (University of Oxford, UK)
C. Smith (University of Cambridge, UK)
T. Dörk (Medical School of Hannover, Gemany)
J. Valcárcel (ICREA and Centre de Regulacio Genomica,B
arcelona, Spain)
Programme
Thursday,
7 April
15.00-16.00 Registration and Welcome Coffee ICGEB Foyer, W
Building
16.00-16.15 Opening Remarks Francisco E. Baralle, Director-General,
ICGEB, Trieste, Italy
1st Section – Basic Mechanisms of pre-mRNA Processing
16.15-16.45 Determinants of Exon Identity in the Spinal Muscular
Atrophy Genes, SMN1 or SMN2
Adrian Krainer, Cold Spring Harbor Laboratory, New York, USA
16.50-17.20 Alternatively Spliced Exons with Distant Branch
Points
Christopher W.J. Smith, University of Cambridge, UK
17.25-17.55 Interconnecting Transcription and Messenger RNA
Processing in Eukaryotes
Nicholas J. Proudfoot, University of Oxford, UK
18.00-18.30 Control of Alternative Splicing in Apoptotic Genes
Benoit Chabot, Université de Sherbrooke, Québec,
Canada
18.35 Get-together Party ICGEB Foyer, W Building
19.30 Bus to hotel
Friday, 8 April
2nd Section – Basic Mechanisms of pre-mRNA Processing
09.00-09.30 Multiple Roles of Arginine/Serine-rich Splicing
Factors in RNA Processing
Javier F. Caceres, Western General Hospital, Edinburgh, UK
09.35-10.05 A Polar Mechanism Coordinates Different Regions
of
Alternative Splicing within a Single Gene
Alberto Kornblihtt, Universidad de Buenos Aires, Argentina
10.10-10.40 Genetic Programmes of Alternative Splicing Regulation
Juan Valcárcel, ICREA and Centre de Regulació
Genòmica, Barcelona, Spain
10.45-11.15 Coffee Break ICGEB Foyer, W Building
11.15-11.45 Influence of RNA secondary structure on pre-mRNA
splicing processing
Emanuele Buratti, ICGEB, Trieste, Italy
11.50-12.05 A conserved intronic region in alpha-tropomyosin
behaves as a phantom exon by coupling alternative splicing
to NMD
Sushma Nagaraja Grellscheid, University of Cambridge, UK
12.10-12.25 Intron retention due to activated exonic splicing
enhancer as a cause of homocystinuria
Katerina Betincova, Charles University, Prague, Czech Republic
12.30-12.45 The Prp16p ATPase-dependent remodeling the catalytic
core between the two steps of splicing is antagonised by Isy1p
Tommaso Villa, University of California, San Francisco, CA,
USA
13.30-14.30 Lunch Cafeteria, Ground Floor, C Building
3rd Section – The Impact of Splicing Defects in
Human Pathology/1
14.30-15.00 Aberrant splicing of human CFTR exon 9
Francisco E. Baralle
15.05-15.35 Pathogenesis of Myotonic Dystrophy caused by Disrupted
Regulation of Alternative Splicing
Thomas A. Cooper, Baylor College of Medicine, Houston, USA
15.40-16.10 Splicing Associated Sequence Bias in Mammalian
CFTR Exon 12 Evolution
Franco Pagani, ICGEB, Trieste, Italy
16.15-16.45 Identification of Disease-causing Splicing Mutations
in Genomic Screenings
Thilo Dörk, Hannover Medical School, Germany
16.50-17.10 Selection-driven Polymorphism in the Major Histocompatibility
Complex and Pre-mRNA Splicing
Igor Vorechovsky, School of Medicine, University of Southampton,
UK
17.15-17.50 Coffee break ICGEB Foyer, W Building
17.50-18.05 An identical A>G mutation in a 7 nt. shared
exonic motif causes exon skipping in the SBCAD and ATR genes
Pia Pinholt Madsen, Aarhus University, Denmark
18.10-18.25 Usage of a TT5 splice site in Franconi Anemia
Kornelia Neveling, University of
Wuerzburg, Germany
18.30 Bus to hotel
Saturday, 9 April
4th Section – The Impact of Splicing Defects in
Human Pathology/2
09.00-09.30 Chaperoning snRNP Biogenesis in Health and Disease
Livio Pellizzoni, Dulbecco Telethon Institute at the Institute
of Cell Biology – CNR, Rome, Italy
09.35-09.55 Complexity of 5’ splice site complexes
Marco Baralle, ICGEB, Trieste, Italy
10.00-10.20 RNA-binding Proteins in Lung Cancer
Luis M. Montuenga, University of Navarra, Spain
10.25-10.45 Regulation of Alternative Splicing by snoRNAs
contributes to Prader-Willy-Syndrome
Stefan Stamm, Institute of Biochemistry, University of Erlangen,
Germany)
10.50-11.10 Splicing Factor SF2/ASF Controls Cell Motility
and Alternative Splicing of the Ron Proto-oncogene
Giuseppe Biamonti, Institute of Molecular Genetics –
CNR, Pavia, Italy
11.15-11.45 Coffee Break ICGEB Foyer, W Building
11.45-12.05 Study of NF1 mutations affecting splicing Conxi
Lazaro, CGMM-IRO-IDIBELL,
Barcelona, Spain
12.05-12.25 Multiple anti-HIV-1 stratgies based on U7 snRNA-mediated
redirection of splicing and on RNA interference
Maria Asparuhova, University of Bern, Switzerland
12.25-12.45 Blocking SR binding sites by antisense oligonucleotides
to indice exon skipping: therapeutic applications for Duchenne
Muscular Dystrophy
Annemieke Aartsma-Rus, Leiden University Medical Center, The
Netherlands
12.45-13.05 Restoration of the CFTR function by splicing modulation
Malka Nissim-Rafinia, The Hebrew University, Jerusalem, Israel
13.00-15.00 Lunch ICGEB Foyer, W Building
15.00 Bus to hotel
List of participants
Organisers:
BARALLE, Francisco E. Director-General, ICGEB, AREA Science
Park, Padriciano 99, I-34012 Trieste, ITALY. Telephone: +39-040-3757337;
Fax: +39-040-3757361; E-mail: baralle@icgeb.org
PAGANI, Franco Molecular Pathology Laboratory, ICGEB, AREA
Science Park, Padriciano 99, I-34012 Trieste, Italy. Telephone:
+39-040-3757312; Fax: +39-040-226555; E-mail: pagani@icgeb.org
Lecturers:
BARALLE, Marco Molecular Pathology Laboratory, ICGEB, AREA
Science Park, Padriciano 99, I-34012 Trieste, Italy. Telephone:
+39-040-3757316; Fax: +39-040-226555; E-mail: barallem@icgeb.org
BIAMONTI, Giuseppe Istituto di Genetica Biochimica ed Evoluzionistica,
CNR, Via Abbiategrasso, 207, I-27100 Pavia, ITALY. Telephone:
+39-0382-546322, 546323; Fax: +39-0382-422286; E-mail: biamonti@ipvgbe.pv.cnr.it
BURATTI, Emanuele Molecular Pathology Laboratory, ICGEB, AREA
Science Park, Padriciano 99, I-34012 Trieste, Italy. Telephone:
+39-040-3757316; Fax: +39-040-226555; E-mail: buratti@icgeb.org
CACERES, Javier F. MRC Human Genetics Unit, Chromosome Biology
Section, Western General Hospital, Crewe Road, Edinburgh EH4
2XU, UK. Telephone: +44-131-4678426 (direct line and answer
machine), +44-131-3322471 (switchboard) X-2301; Fax: +44-131-4678456;
E-mail: javier.caceres@hgu.mrc.ac.uk
CHABOT, Benoit Professeur titulaire et directeur/Professor
and Head, Département de microbiologie et d'infectiologie,
RNA Group/Groupe ARNm Faculté de médecine, 3001,
12e avenue Nord, Université de Sherbrooke, Sherbrooke,
Québec J1H 5N4, CANADA. Telephone: +1-819-5645295;
Fax: +1-819-5645392; E-mail: benoit.chabot@usherbrooke.ca
COOPER, Thomas A. S. Donald Greenberg Professor of Pathology,
Baylor College of Medicine, One Baylor Plaza, Houston, TX
77030, USA. Telephone: +1-713-7983141; Fax: +1-713-7985838;
E-mail: tcooper@bcm.tmc.edu
DÖRK, Thilo Gynecology Research Unit, Hannover Medical
School, Hannover, D-30625, Germany. Telephone: +49-511-5326075;
Fax: +49-511-5326081; E-mail: doerk.thilo@mh-hannover.de,
thilo.doerk.oststadt@klinikum-hannover.de
KORNBLIHTT, Alberto R. Laboratorio de Fisiologia y Biologia
Molecular, Facultad de Ciencias Exactas y Naturales, Universidad
de Buenos Aires, Ciudad Universitaria -Pabellon 2 -2°
piso, ARGENTINA. Telephone: +54-11-45763386, 45763368; Fax:
+54-11-45763321; E-mail: ark@fbmc.fcen.uba.ar
KRAINER, Adrian Cold Spring Harbor Laboratory, Cold Spring
Harbor, NY, USA. Telephone: +1-516-3678417; Fax: +1-516-3678453;
E-mail: krainer@cshl.org
PELLIZZONI, Livio EMBO Young Investigator, Assistant Telethon
Scientist, Dulbecco Telethon Institute at the Institute of
Cell Biology (CNR), Campus "Adriano Buzzati-Traverso",
Via E. Ramarini 32, I-00016 Monterotondo Scalo (Roma), ITALY.
Telephone: +39-06-90091326; Fax: +39-06-90091259; E-mail:
livio.pellizzoni@ibc.cnr.it
PROUDFOOT, Nicholas J. Professor of Molecular Biology, Sir
William Dunn School of Pathology, University of Oxford, South
Parks rd, Oxford OX1 3RE, UK. Telephone: +44-1865-275566;
Fax: +44-1865-275556; E-mail: nicholas.proudfoot@pathology.oxford.ac.uk
SMITH, Chris Department of Biochemistry, 80, Tennis Court
Road, Old Addenbrookes Site, University of Cambridge, Cambridge
CB2 1GA, UK. Telephone: +44-1223-333655 (office), 333665 (lab);
Fax: +44-1223-766002; E-mail: cwjs1@mole.bio.cam.ac.uk
VALCÁRCEL, Juan ICREA and Centre de Regulació
Genòmica, Passeig Marítim, 37-49, 08003 Barcelona,
SPAIN. Telephone: +34-932240956 (office), 932240957 (lab);
E-mail: juan.valcarcel@crg.es
Participants:
AARTSMA-RUS, Annemieke Leiden University Medical Center, Department
of Human Genetics, Wassenaarseweg 72, 2333 AL Leiden, THE
NETHERLANDS. Telephone: +31-71-5276080; Fax: +31-71-5276075;
E-mail: a.m.rus@lumc.nl
AKHTAR, Md Kamal National Center of Applied Human Genetics,
School of Life Sciences, Jawaharlal Nehru University, New
Delhi 110067, INDIA. Telephone: +91-11-26103211; Fax: +91-11-26103211;
E-mail: kamal332@yahoo.co.in
AL-BABA, Shadi Royal Manchester Children's Hospital, Clinical
Genetics, Hospital Road, M27 4HA Manchester, UK. Telephone:
+44-7729884957; Fax: +44-161-7272328; E-mail: shadi.al-baba@cmmc.nhs.uk
AL-SHALCHI, Sahar Abdul Wahab Biotechnology Department, College
of Science, Baghdad University, Baghdad, IRAQ. Telephone:
+964-1-5564955; E-mail: saharalshalchi_66@hotmail.com
ARINGHIERI, Chiara Department of Biotechnologies and Biosciences,
University of Milano-Bicocca, P.zza della Scienza 2, I-20126
Milano, ITALY. Telephone: +39-02-64483348, 64483352; Fax:
+39-02-64483569; E-mail: kia13@supereva.it
ASANG, Corinna Universitätsklinikum Düsseldorf,
Institute für Virologie, Direktor Prof. Dr. H. Hengel,
AG Prof. D. H. Schaal, Universitätsstr. 1, 40225 Düsseldorf,
GERMANY. Telephone: +49-211-8112398; Fax: +49-211-8112227;
E-mail: asang@uni-duesseldorf.de
ASPARUHOVA, Maria University of Bern, Institute of Cell Biology,
Baltzerstrasse 4, Bern 3012, SWITZERLAND. Telephone: +41-31-6314681;
Fax: +41-31-6314616; E-mail: maria.asparuhova@izb.unibe.ch
BETINCOVA, Katerina Institute of Inherited Metabolic Disorders,
First Faculty of Medicine, Charles University, Prague, Ke
Karlovu 2, Praha 2, 128 08, CZECH REPUBLIC. Telephone: +420-224-967668;
Fax: +420-224-919392; E-mail: katerina.betincova@lf1.cuni.cz
BHUVANAGIRI, Madhuri School of Lifesciences, J.N.U., New Delhi,
INDIA. Telephone: +91-09891210346; Fax: +91-120-2515268; E-mail:
madhuribhuvana@yahoo.com
BLILA, Rania Mohamed Hassan Department of Zoology, Faculty
of Science, University of Khartoum, P.O. Box 321, Khartoum,
SUDAN. Telephone: +249-183-463299, +249-912219502 (mobile);
Fax: +249-183-780295; E-mail: raniabaleela@maktoob.com
BRINDISI, Antonia ICGEB, Molecular Pathology Lab., Padriciano
99, I-34012 Trieste, ITALY. Telephone: +39-040-3757316; Fax:
+39-040-226555; E-mail: brindisi@icgeb.org
BRUHN, Thomas Institute of Experimental Dermatology, University
of Münster, von-Esmarch-Str. 58, 48149 Münster,
GERMANY. Telephone: +49-251-8352680, +49-160-8230769 (mobile);
Fax: +49-251-8357226; E-mail: tbruhn@uni-muenster.de
CABIANCA, Daphne Istituto di Genetica Molecolare del C.N.R.,
Via Abbiategrasso 207, I-27100 Pavia, ITALY. Telephone: +39-02-90785452
(Home), +39-0382-546375 (Lab); Fax: +39-0382-422286; E-mail:
cabianca@igm.cnr.it
CHEN, Xianhua Laboratory of Genomic Physiology, School of
Life Sciences, Fudan University, 220 Handan Road, Shanghai,
200433, CHINA. Telephone: +86-21-65642903; Fax: +86-21-65642903;
E-mail: xhchen@fudan.edu.cn
CORCOS, Laurent INSERM U613 / EA948, Faculty of Medicine,
22, Avenue Camille Desmoulins, 29238 Brest Cedex 3, FRANCE.
Telephone: +33-2-98018301; Fax: +33-2-98016603; E-mail: laurent.corcos@univ-brest.fr
COSTESSI, Luisa Molecular Pathology Laboratory, ICGEB, AREA
Science Park, Padriciano 99, I34012 Trieste, ITALY. Telephone:
+39-040-3757312; Fax: +39-040-226555; E-mail: costessi@icgeb.org
DAYANGAÇ, Didem Department of Medical Biology, Faculty
of Medicine, Hacettepe University, Hacettepe Children Hospital,
Floor 6, Sihhiye 06100, Ankara, TURKEY. Telephone: +90-312-3052541;
Fax: +90-312-3096060; E-mail: didayan@hacettepe.edu.tr
DE CONTI, Laura ICGEB, Molecular Pathology Lab., Padriciano
99, I-34012 Trieste, ITALY. Telephone: +39-040-3757312; Fax:
+39-040-226555; E-mail: deconti@icgeb.org
DHIR, Ashish Lab No. 332, School of Life Science, Jawaharlal
Nehru University, Munirka, New Delhi, INDIA. Telephone: +91-9810967669;
Fax: +91-11-23375954; E-mail: adbiotech@rediffmail.com
FELICE, Barbara IFOM, Istituto FIRC di Oncologia Molecolare,
Via Adamello 16, I-20139 Milan, ITALY. Telephone: +39-02-574303233,
574303200; Fax: +39-02-574303244, 574303231; E-mail: barbara.felice@ifom-ieo-campus.it
GOINA, Elisa ICGEB, Molecular Pathology Lab., Padriciano 99,
I-34012 Trieste, ITALY. Telephone: +39-040-3757312; Fax: +39-040-226555;
E-mail: goina@icgeb.org
GRELLSCHEID, Sushma Nagaraja C/o David Elliott, Institute
of Human Genetics, International Centre for Life, Central
Parkway, Newcastle upon Tyne, NE1 3BZ, UK. Telephone: +44-191-3741319;
E-mail: sushma@cantab.net, sn233@cam.ac.uk
KALB, Reinhard University of Wuerzburg, Dept. of Human Genetics,
Am Hubland, Biozentrum, B107, 97074 Würzburg, GERMANY.
Telephone: +49-93-18884089; Fax: +49-93-18884069; E-mail:
r.kalb@biozentrum.uni-wuerzburg.de
KRALOVICOVA, Jana Human Genetics Division, School of Medicine,
University of Southampton, MP808, Tremona Rd, Southampton,
SO16 6YD, UK. Telephone: +44-2380-796425; Fax: +44-2380-794264;
E-mail: jakr@soton.ac.uk
LÁZARO GARCÍA, Concepcion Medical and Molecular
Genetics Center (MMGC), Cancer Research Institute (IRO), Hospital
Duran i Reynals, Gran Via s/n, Km 2.7, 08907 Hospitalet de
Llobregat, Barcelona, SPAIN. Telephone: +34-93-2607471; Fax:
+34-93-2607414; E-mail: clazaro@iro.es
LEI, Haixin Department of Molecular Genetic Epidemiology C050,
Germany Cancer Research Center (DKFZ), Im Neuenheimer Feld
580, 69120 Heidelberg, GERMANY. Telephone: +49-6221-421806;
Fax: +49-6221-421810; E-mail: kahxlei@yahoo.com, h.lei@dkfz-heidelberg.de
MADSEN, Pia Pinholt Aarhus University Hospital, Skejby Sygehus,
Research Unit of Molecular Medicine, Brendstrupgaardsvej 100,
DK-8200 Aarhus N, DENMARK. Telephone: +4589495142; Fax: +45-89496018;
E-mail: pia.pinholt@ki.au.dk
MARCUCCI, Roberto ICGEB, Molecular Pathology Lab., Padriciano
99, I-34012 Trieste, ITALY. Telephone: +39-040-3757312; Fax:
+39-040-226555; E-mail: marcucci@icgeb.org
MONTUENGA,
Luis M. Professor of Cell Biology, Department of Histology
and Pathology, Schools of Medicine and Sciences and Oncology
Research Division, Center for Applied Medical Research, University
of Navarra, Pamplona-31080, SPAIN. Telephone: +34-948-425600;
Fax: +34-948-425649; E-mail: lmontuenga@unav.es
MORETTI, Federico Andrea ICGEB, Molecular Pathology Lab.,
Padriciano 99, I-34012 Trieste, ITALY. Telephone: +39-040-3757312;
Fax: +39-040-226555; E-mail: moretti@icgeb.org
NEVELING, Kornelia University of Wuerzburg, Dept. of Human
Genetics, Biozentrum, B107, Am Hubland, 97074 Wuerzburg, GERMANY.
Telephone: +49-931-8884089; Fax: +49-931-8884069; E-mail:
kornelia.neveling@stud-mail.uni-wuerzburg.de
NISSIM-RAFINIA, Malka Genetic Department, Hebrew University,
Givat-Ram Campus, Jerusalem 91904, ISRAEL. Telephone: +972-2-6585122;
Fax: +972-2-6584810; E-mail: malkar@cc.huji.ac.il
PINOTTI, Mirko Department of Biochemistry and Molecular Biology,
University of Ferrara, Via Fossato di Mortara 74, I-44110
Ferrara, ITALY. Telephone: +39-0532-424424; Fax: +39-0532-424484;
E-mail: pnm@unife.it
PIVA, Francesco Istituto di Biologia e Genetica, Università
Politecnica delle Marche, Via Brecce Bianche, Monte D'Ago,
I-60131 Ancona, ITALY. Telephone: +39-071-2204376; Fax: +39-071-2204609;
E-mail: f.piva@univpm.it
PLATONOVA, Natalia Laboratory of Development Genetics of Dr.
Giorgio Merlo, Dulbecco Telethon Institute, DTI/CNR/ITB, Via
F. Cervi, 93, I-20090 Segrate (Milano), ITALY. Telephone:
+39-3391163221; Fax: +39-02-26422660; E-mail: nplatonova2000@mail.ru
RAPONI, Michela Department of Pathology, University of Cambridge,
Tennis Court Road, Cambridge, CB2 1QP, UK. Telephone: +44-1223-333460;
Fax: +44-1223-333346; E-mail: mr407@cam.ac.uk
RIVOLTA, Carlo Department of Medical Genetics, University
of Lausanne, Rue du Bugnon 27, CH-1005 Lausanne, SWITZERLAND.
Telephone: +41-21-6925451; Fax: +41-21-6925455; E-mail: carlo.rivolta@unil.ch
RIZZOTTO, Lara Department of Biochemistry and Molecular Biology,
University of Ferrara, Via Fossato di Mortara 74, I-44100
Ferrara, ITALY. Telephone: +39-0532-424424; Fax: +39-0532-424484;
E-mail: lara_rizz@yahoo.it
SINICI, Incilay Department of Biochemistry, Hacettepe University
Faculty of Medicine, Sihhiye, 06100, Ankara, TURKEY. Telephone:
+90-532-3764032; Fax: +90-312-3100580; E-mail: isinici@hacettepe.edu.tr,
incilaylay@yahoo.com
SOLIER, Stéfanie Unité INSERM 517, Laboratoire
Mort Cellulaire et Cancer (Pr. Solary), Faculté de
Médecine, 7 boulevard Jeanne d'Arc, 21033 DIJON, FRANCE.
Telephone: +33-0380393440; Fax: +33-0380393434; E-mail: ssolier@9online.fr
STAHLBERG, Anders Department of Chemistry and Biosciences
- Molecular Biotechnology, Chalmers University of Technology,
Lundbergslaboratoriet, Medicinargatan 9E, 413 90 Gothenburg,
SWEDEN. Telephone: +46-31-7733916; Fax: +46-31-7733910; E-mail:
anders.stalberg@molbiotech.chalmers.se
STAMM, Stefan Institute of Biochemistry, University of Erlangen,
Fahrstrasse 17, 91054 Erlangen, GERMANY. Telephone: +49-9-1318524622;
Fax: +49-9-1318524605; E-mail: stefan@stamms-lab.net
STELLA, Alessandro Sezione di Genetica Medica-Dimimp, Policlinico-Università
di Bari, P.zza G. Cesare 11, I-70124 Bari, ITALY. Telephone:
+39-080-5478270; Fax: +39-080-5478269; E-mail: alexst@medgene.uniba.it
SZWAGRZYK, Marzena Anna ICGEB, Molecular Pathology Lab., Padriciano
99, I-34012 Trieste, ITALY. Telephone: +39-040-3757316; Fax:
+39-040-226555; E-mail: szwagrzy@icgeb.org
TERRANOVA, Cettina Section of Biology and Genetics, Department
of Mother and Child, Biology and Genetics, University of Verona,
Strada Le Grazie 8, I-37134 Verona, ITALY. Telephone: +39-045-8027675;
Fax: +39-045-8027180; E-mail: cterranova@medicina.univr.it
VILLA, Tommaso Department of Biochemistry and Biophysics,
University of California, San Francisco, Mission Bay Campus,
Genentech Hall, 600 16th Street, Room N374, Box 2200, San
Francisco, CA, 94143-2200 (for standard mail), 94158 (for
courier mail), USA. Telephone: +1-415-4764705; Fax: +1-415-5024315;
E-mail: villa@itsa.ucsf.edu
VORECHOVSKY, Igor Human Genetics Division, School of Medicine,
University of Southampton, MP808, Tremona Rd, Southampton,
SO16 6YD, UK. Telephone: +44-2380-796425; Fax: +44-2380-794264;
E-mail: igvo@soton.ac.uk, i.vorechovsky@soton.ac.uk
WHITE, Helen Elizabeth National Genetics Reference Laboratory
(Wessex), University of Southmpton, Wessex Regional Genetics,
Salisbury District Hospital, Salisbury, SP2 8BJ, UK. Telephone:
+44-1722-429016; Fax: +44-1722-338095, 331531; E-mail: hew@soton.ac.uk
ZATKOVA, Andrea Department of Human Genetics, Clinical Institute
of Medical and Chemical Laboratory Diagnostics (KIMCL), Medical
University Vienna (MUW), Währinger Str. 10, 1090 Vienna,
AUSTRIA. Telephone: +43-1-4277-60640; Fax: +43-1-4277-9606;
E-mail: andrea.zatkova@meduniwien.ac.at
Observers:
BERTOK, Sara Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
BREGANT, Elisa Istituto di Genetica del Policlinico universitario
di Udine, ITALY.
D'ELIA, Angela Valentina Servizio di Genetica Medica, I.R.C.C.S.
Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY.
Telephone: +39-040-3785424
FABRIS, Annalisa Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
GERIN, Fabio Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
GIUNTA, Marina Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
HLADNIK, Uros Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
LONIGRO, Renata Istituto di Genetica del Policlinico universitario
di Udine, ITALY.
MARZILIANO, Nicola Servizio di Genetica Medica, I.R.C.C.S.
Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY.
Telephone: +39-040-3785424
MAZZONE, Graciela Luján Centro Studi Fegato, AREA Science
Park Basovizza, Bldg. Q SS 14 Km 163,5, I-34012 Trieste, ITALY.
Telephone: +39-040-3757915; Fax: +39-040-3757832; E-mail:
graciela.mazzone@csf.units.it
PASSON, Nadia Istituto di Genetica del Policlinico universitario
di Udine, ITALY.
ROCA, Leslye Centro Studi Fegato, AREA Science Park Basovizza,
Bldg. Q SS 14 Km 163,5, I-34012 Trieste, ITALY. Telephone:
+39-040-3757915; Fax: +39-040-3757832; E-mail: leslye.roca@csf.units.it
VIEL, Alessandra Servizio di Genetica Medica, I.R.C.C.S. Burlo
Garofolo, Via dell'Istria 65/1, 34137 Trieste, ITALY. Telephone:
+39-040-3785424
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