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Genetics of the Nucleus
 
February 20 - 24
Coordinators: Isabel Marques Carreira and Catarina Resende de Oliveira

Invited Speakers:
 
 
Professor Maj A. Hultén
 
Department of Biological Sciences, University of Warwick, Coventry, UK
 
 
Institut fur Humangenetik und Anthropologie, Jena, Germany
Coordinator:
 
 
 
Institute of Medical Biology, Faculty of Medicine, University of Coimbra
 
 
Center for Neurosciences and Cell Biology; Institute of Biochemistry, Faculty of Medicine, University of Coimbra
 
Objectives
This course on genetics of the nucleus aims at covering background information concerning biological mechanisms of the cell division and the impact of its deregulation on diseases, as well as emergent questions in the fields as variable as mental retardation, fertility and oncology.


Evaluation of the students:
 
Students will be evaluated on their article presentations and discussion; participation during the lectures and assiduity.
There will be 4 sessions of articles discussion (I to IV). Articles for discussion and recommended literature are already available in the site. Each group will have to present one article in sessions I or II and another article in sessions III or IV. The groups will be composed of 3 students (the choice of group members will be upon the students and has to be done in the first morning of the course). In the afternoon of the first day, articles will be drawn among the groups.
 
 
Contact for more details:
Prof. Doutora Isabel Marques Carreira
Laboratório de Citogenética – Diagnóstico Prénatal
Faculdade de Medicina da Universidade de Coimbra
Rua Larga
3004-504 Coimbra, Portugal
Tel/Fax . +351 23983886
e-mail: icarreira@fmed.uc.pt
i_marques@hotmail.com


Programme:
 
Monday, 20/02/2006
09.30
Biological mechanisms of the errors of meiosis and mitosis. Methodologies in the study of chromosomes.
 
Professor Isabel Marques Carreira
 
Discussion
11.00
Coffee break
11.30
Numerical, balanced and unbalanced structural chromosomal abnormalities and their clinical implications.
 
Professor Isabel Marques Carreira
 
Discussion
 
 
14.00
Pre-Natal Diagnosis: indications; methodologies and implications of the errors of meiosis and mitosis.
 
Professor Isabel Marques Carreira
 
Discussion
15.30
Coffee break
16.00
Resolution of practical problems.
 
Professor Isabel Marques Carreira
17.30
End of session
 
Tuesday, 21/02/2006
09.30
Overview of the meiotic process. Evaluation of a CD Rom.
 
Professor Maj Hulten
 
Discussion
11.00
Coffee break
11.30
Meiotic Chromosome pairing, recombination and segregation.
 
Professor Maj Hulten
 
Discussion
 
 
14.30
Meiotic Research and grant applications.
 
Professor Maj Hulten
16.00
End of session
 
Wednesday, 22/02/2006
09.30
Articles discussion I.
 
Coordinator – Professor Maj Hulten
11.00
Coffee break
11.30
Articles discussion II.
 
Coordinator – Professor Maj Hulten
 
 
14.30
Basics of molecular cytogenetics.
 
Professor Thomas Liehr
 
Discussion
16.00
Coffee break
16.30
Recent developments in molecular cytogenetics.
 
Professor Thomas Liehr
 
Discussion
18.00
End of Session
 
Thursday, 23/02/2006
11.30
Molecular cytogenetics in interphase cells.
 
Professor Thomas Liehr
 
Discussion
 
 
14.30
Molecular cytogenetics in tumor cells.
 
Professor Thomas Liehr
 
Discussion
16.00
End of Session
 
Friday, 24/02/2006
09.30
Articles discussion III.
 
Coordinator – Professor Thomas Liehr
11.00
Coffee break
11.30
Articles discussion IV.
 
Coordinator – Professor Thomas Liehr
 
 
16.00
Seminar “When are chromosomes, chromosomes?”
 
Professor Thomas Liehr
 
IBILI Auditorium
 
 
Articles
Discussion I and II
 
 
 
 
 
Discussion III and IV
 
 
 
 
 
Meiosis
 


Selected Publications
Professor Maj A. Hultén
 
Tease C, Hulten MA. Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res. 2004;107(3-4):208-15
Tease C, Hartshorne GM, Hulten MA. Patterns of meiotic recombination in human fetal oocytes. Am J Hum Genet. 2002 ;70(6):1469-79
Lyrakou S, Hulten MA, Hartshorne GM. Growth factors promote meiosis in mouse fetal ovaries in vitro. Mol Hum Reprod. 2002 ;8(10):906-11
Armstrong SJ, Goldman AS, Speed RM, Hulten MA. Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation. Am J Hum Genet. 2000;67(3):601-9.
 
 
 
Liehr T, Brude E, Gillessen-Kaesbach G, Konig R, Mrasek K, von Eggeling F, Starke H. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases. Eur J Med Genet. 2005 ;48(2):175-81.
T Liehr, H Starke, A Weise, H Lehrer, U Claussen. Multicolor FISH probe sets and their applications. Histol Histopathol 2004, Vol.19, pp229-237.
H Lehrer, A Weise, S Michel, H Starke, K Mrasek, A Heller, A Kuechler, U Claussen, T Liehr. The hierarchically organized splitting of chromosomal bands into sub-bands analyzed by multicolor banding (MCB). Cytogenet Genome Res 2004,Vol 105, pp 25-28.
E Gebhart, T Liehr. Patterns of genomic imbalances in human solid tumors (Review). Int J Onc 2000, Vol 16, pp 383-399.
 
 
 
Grazina M, Silva F, Santana I, Pratas J, Santiago B, Oliveira M, Carreira I, Cunha L, Oliveira C. Mitochondrial DNA variants in a portuguese population of patients with Alzheimer´s disease. Eur Neurol. 2005; 53(3):121-4
Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataide A, Miguel T, Saraiva J, Carreira I. Partial tetrasomy of chromosome 3q and mosaicism in a child with autism. J Autism Dev Disord. 2003 ;33(2):177-85
Saraiva JM, Anionwu E, Belo M, Jenkins T, Kristoffersson U, Marques I, Santos HG, Sequeiros J, Simpson SA, Wertz D, Monteiro C. Issues in human GenEthics.Genet Med. 2001; 3(3):218-9
Saraiva JM, Matoso E, Marques I. Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome. J Med Genet. 1998 ;35(4):347-8
 
 
 
Moreira PI, Santos MS, Sena C, Seica R, Oliveira CR. Insulin protects against amyloid beta-peptide toxicity in brain mitochondria of diabetic rats. Neurobiol Dis. 2005;18(3):628-37
Duarte AI, Santos MS, Seica R, Oliveira CR. Oxidative stress affects synaptosomal gamma-aminobutyric acid and glutamate transport in diabetic rats: the role of insulin. Diabetes 2004; 53(8):2110-6
Grazina M, Silva F, Santana I, Santiago B, Mendes C, Simoes M, Oliveira M, Cunha L, Oliveira C. Frontotemporal dementia and mitochondrial DNA transitions. Neurobiol Dis. 2004; 15(2):306-11
Agostinho P, Oliveira CR. Involvement of calcineurin in the neurotoxic effects induced by amyloid-beta and prion peptides. Eur J Neurosci. 2003; 17(6):1189-96
 

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