Background
Jordi was born on December 31, 1966, in Barcelona, Catalonia, Spain.
biologist geneticist researcher
Jordi was born on December 31, 1966, in Barcelona, Catalonia, Spain.
Dr. Guimera was born on December 31st, 1966, in Barcelona. Deeply impressed by the reading of the book “On the Origin of Species by Means of Natural Selection, or the Preservation of Favoured Races in the Struggle for Life” by Charles Darwin and the combination of natural selection theory with Mendelian genetics, he was early fascinated by the modern trends on molecular biology. Dr. Guimera studied biology (branch genetics) at the Faculty of Biology, University of Barcelona (Catalonia).
In 1992, he started working in the human genetics field as a research assistant in the Biomedical Research Institute (Barcelona) working on the construction of a linkage map integrated into the cytogenetic, genetic and YAC maps of human chromosome 21. At the end of 1993, he began his Ph.D. studies in the Dept. of Molecular Genetics in the Cancer Research Institute (Barcelona) under the supervision of Prof. Xavier Estivill, in isolating new genes involved in the mental retardation of Down syndrome. Human cosmid libraries were constructed and a YAC/cosmid contig was generated from the Down syndrome critical region (a region on the long arm of chromosome 21 thought to be responsible for most of the features of Down syndrome, including the severe intellectual disability). His further research carried out at the University of Texas, Southwestern Medical Center (Dallas, USA; Prof. Michael Lovett) and at the University of London, St Mary's Hospital Medical School (London, England; Prof. Bob Williamson), was pivotal for the discovery of 37 novel human genes and the 1st generation of a transcriptional map covering the Down syndrome critical region. His studies culminated in the identification and characterization of the Minibrain gene (MNB-Dyrk1a) as a putative neurogenic factor that, when misexpressed, is involved in the intellectual disability observed in individuals with Down syndrome. Gain/ and loss-of-function studies in mouse models demonstrated that MNB is responsible for the learning deficits and other dysfunctions that may be associated with Down syndrome. Modern molecular genetic technics combined with morphological and developmental studies carried out at the University of Medicine (Murcia, Prof. Salvador Martínez and Prof. Luís Puelles) completed his scientific formation. In 1998 received his doctoral degrees in Biology (summa cum laude by unanimous decision) by the University of Barcelona.
As the recipient of a Marie Curie research fellowship (1998-2000), Dr. Guimera continued his postdoctoral research in the developmental genetics field in the Institute of Mammalian Genetics at the GSF Center (Munich, Germany; Prof. Rudi Balling). He is currently Principal Investigator in the Institute of Development genetics at the Helmholtz Zentrum München. Much of his work in mouse genetics has focused on the development and function of midbrain GABAergic neurogenesis. His research group aimed to discover the genetics and the mechanisms underlying the dorsal/ventral midbrain GABAergic neurogenesis. His major scientific achievement at present is the identification and characterization of a novel bHLH gene (Megane) as a cell fate determinant of midbrain GABAergic neurogenesis, as determined by gene targeting-homologous recombination in mouse embryonic stem cells. He has also generated new mouse models involving gain/ and loss-of-function experiments and deciphered the mechanisms underlying the specification of the GABAergic neurons in the brain. He is currently investigating their potential involvement in human diseases when misregulated. In addition, his group presented recently a novel conceptual advance regarding the two most important bHLH families involved in neurogenesis. Neurogenesis depends essentially on the balance between transcription factors belonging to the hairy/E(spl) and proneural families. These two families have long been believed to counterpart each other’s function. The conceptual advances provided by the findings presented in this study uncover the first synergistic cooperation between these two families provides a novel paradigm for how these two families cooperate for the acquisition of GABAergic neuronal identity, outlines the underlying mechanisms, and defines a new model for dorsal/ventral midbrain GABAergic neurogenesis.
The significance of these findings for the broader community is given by the fact that Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the mature brain. Many neurological conditions such as schizophrenia, bipolar disorder, epilepsy, anxiety, Huntington’s disease, chronic pain, and addiction are associated with remarkable dysfunctional GABAergic inhibition. Finding the factors dictating GABAergic neuronal specification and concomitantly understanding the molecular mechanisms and functional interactions between these factors is one of the major challenges in developmental neurogenesis and it is essential for cell therapy strategies in which the GABAergic system is disturbed.
In 1992 Jordi started working in the human genetics field as a research assistant at the Biomedical Research Institute in Barcelona, Spain working on the construction of a linkage map integrated into the cytogenetic, genetic and YAC maps of human chromosome 21. At the end of 1993, he began his Ph.D. studies at the Department of Molecular Genetics at the Cancer Research Institute in Barcelona, Spain under the supervision of Professor Xavier Estivill, in isolating new genes involved in the mental retardation of Down syndrome. Human cosmid libraries were constructed and a YAC, cosmid contig was generated from the Down syndrome critical region (a region on the long arm of chromosome 21 thought to be responsible for most of the features of Down syndrome, including the severe intellectual disability). His further research carried out at the University of Texas, Southwestern Medical Center in Dallas, Texas, United States, and at the University of London, St Mary's Hospital Medical School in London, England. Prof. Bob Williamson was pivotal for the discovery of 37 novel human genes and the 1st generation of a transcriptional map covering the Down syndrome critical region. His studies culminated in the identification and characterization of the Minibrain gene (MNB-Dyrk1a) as a putative neurogenic factor that, when misexpressed, is involved in the intellectual disability observed in individuals with Down syndrome. Gain and loss-of-function studies in mouse models demonstrated that MNB is responsible for the learning deficits and other dysfunctions that may be associated with Down syndrome. Modern molecular genetic technics combined with morphological and developmental studies carried out at the University of Medicine (Murcia, Prof. Salvador Martínez and Prof. Luís Puelles) completed his scientific formation. In 1998 received his doctoral degrees in Biology (summa cum laude by unanimity) by the University of Barcelona.
As the recipient of a Marie Curie research fellowship from 1998 to 2000), Dr. Guimera continued his postdoctoral research in the developmental genetics field in the Institute of Mammalian Genetics at the GSF Center (Munich, Germany; Prof. Rudi Balling). He is currently Principal Investigator in the Institute of Development genetics at the Helmholtz Zentrum München. Much of his work in mouse genetics has focused on the development and function of midbrain GABAergic neurogenesis. His research group aimed to discover the genetics and the mechanisms underlying the dorsal, ventral midbrain GABAergic neurogenesis. His major scientific achievement at present is the identification and characterization of a novel bHLH gene (Megane) as a cell fate determinant of midbrain GABAergic neurogenesis, as determined by gene targeting-homologous recombination in mouse embryonic stem cells. He is currently generating new mouse models involving gain, and loss-of-function experiments to decipher the mechanisms underlying the specification of the GABAergic neurons in the brain and investigate their potential involvement in human diseases when misregulated. In addition, his group presented recently a novel conceptual advance regarding the two most important bHLH families involved in neurogenesis. Neurogenesis depends essentially on the balance between transcription factors belonging to the hairy, E(spl) and proneural families. These two families have long been believed to counterpart each other’s function. The conceptual advances provided by the findings presented in this study uncover the first synergistic cooperation between these two families provides a novel paradigm for how these two families cooperate for the acquisition of GABAergic neuronal identity, outlines the underlying mechanisms, and defines a new model for dorsal, ventral midbrain GABAergic neurogenesis.
The significance of these findings for the broader community is given by the fact that Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the mature brain. Many neurological conditions such as schizophrenia, bipolar disorder, epilepsy, anxiety, Huntington’s disease, chronic pain, and addiction are associated with a remarkable dysfunctional GABAergic inhibition. Finding the factors dictating GABAergic neuronal specification and concomitantly understanding the molecular mechanisms and functional interactions between these factors is one of the major challenges in developmental neurogenesis and it is essential for cell therapy strategies in which the GABAergic system is disturbed.
Introvert.
Jordi is married to Maria Jose. Children: Felip, Nil, Anna.
PUBLICATIONS PEER REVIEW
Wende CZ, Zoubaa S, Blak A, Echevarria D, Martinez S, Guillemot F, Wurst W, Guimera J. Hairy/Enhancer-of-split MEGANE and proneural MASH1 factors cooperate synergistically in midbrain GABAergic neurogenesis. Plos one. 2015;20.
Song H, Lee B, Pyun D, Guimera J, Son Y, Yoon J, Baek K, Wurst W, Jeong Y. Ascl1 and Helt act combinatorially to specify thalamic neuronal identity by repressing Dlxs activation. Developmental Biology. 2014; 398:280-291.
Delogu A, Sellers K, Zagoraiou L, Bocianowska-Zbrog A, Mandal S, Guimera J, Rubenstein JL, Sugden D, Jessell T, Lumsden A. Subcortical visual shell nuclei targeted by ipRGCs develop from a Sox14+-GABAergic progenitor and require Sox14 to regulate daily activity rhythms. Neuron. 2012; 75:648-62.
Pombero A, Bueno C, Saglietti L, Rodenas M, Guimera J, Bulfone A, Martinez S. Pallial origin of basal forebrain cholinergic neurons in the nucleus basalis of Meynert and horizontal limb of the diagonal band nucleus. Development. 2011; 138:4315-26.
Hämmerle B, Ulin E, Guimera J, Becker W, Guillemot F, Tejedor FJ. Transient expression of Mnb/Dyrk1a couples cell cycle exit and differentiation of neuronal precursors by inducing p27KIP1 expression and suppressing NOTCH signaling. Development. 2011; 138:2543-54.
Kala K, Haugas M, Lilleväli K, Guimera J, Wurst W, Salminen M, Partanen J. Gata2 is a tissue-specific post-mitotic selector gene for midbrain GABAergic neurons. Development. 2009; 136:253-62.
Fischer T, Guimera J, Wurst W, Prakash N. Distinct but redundant expression of the Frizzled Wnt receptor genes at signaling centers of the developing mouse brain. Neuroscience. 2007; 147:693-711.
Guimera J, Weisenhorn DV, Wurst W. Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus. Development. 2006; 133:3847-57.
Guimera J, Vogt Weisenhorn D, Echevarria D, Martinez S, Wurst W. Molecular characterization, structure and developmental expression of Megane bHLH factor. Gene. 2006; 377:65-76.
Pfaar H, von Holst A, Vogt Weisenhorn DM, Brodski C, Guimera J, Wurst W. mPet-1, a mouse ETS-domain transcription factor, is expressed in central serotonergic neurons. Dev Genes Evol. 2002; 212:43-6.
Altafaj X, Dierssen M, Baamonde C, Marti E, Visa J, Guimera J, Oset M, Gonzalez JR, Florez J, Fillat C, Estivill X. Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet. 2001; 10:1915-23.
Casas C, Martinez S, Pritchard MA, Fuentes JJ, Nadal M, Guimera J, Arbones M, Florez J, Soriano E, Estivill X, Alcantara S. Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis. Mech Dev. 2001; 101:289-92.
J Guimerà, C Casas, X Estivill and M Pritchard. Human Minibrain Homologue (HMNB/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics, 1999 57:407-418.
J Guimerà, C Pucharcós, A Domènech, C Casas, A Solans, T Gallardo, J Ashley, M Lovett, X Estivill, M Pritchard. Cosmid Conting and Transcriptional Map of Three Regions of Human Chromosome 21q22: Identification of 37 Novel Transcripts by Direct Selection. Genomics, 1997; 45:59-67.
J Guimerà, M Pritchard, M Nadal, X Estivill. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. Cytogenetics and Cell Genetics, 1997; 77:182-184.
J Guimerà, C Casas, C Pucharcós, A Solans, A Domènech, AM Planas, J Ashley, M Lovett, X Estivill, MA Pritchard. The human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Human Molecular Genetics, 1996; 5:1305-1310.
A Bosch, J Guimerà, S Graw, K Gardiner, I Chumakov, D Patterson, X Estivill. Integration of 30 CA-Repeat Markers into the Cytogenetic, Genetic and YAC Maps of Human Chromosome 21. European Journal Human Genetics, 1996; 4:135-142.
A Bosch, J Guimerà, S Wiemann, W Ansorge, D Patterson, X Estivill. Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3. Human Genetics, 1995; 95:367-369.
A Bosch, S Wiemann, J Guimerà, W Ansorge, D Patterson, X Estivill. Five new microsatellite polymorphisms at the q21 region of human chromosome 21. Human Genetics, 1995; 95:119-122.
A Bosch, J Guimerà, D Patterson, X Estivill. Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1. Human Genetics, 1995; 95:596-598.
I Banchs, A Bosch, J Guimerà, C Lázaro, A Puig, X Estivill. New Alleles at Microsatellite Loci in CEPH Families Mainly Arise From Somatic Mutations in the Lymphoblastoid Cell Lines. Human Mutation, 1994; 3:365-372.
A Bosch, J Guimerà, A Pereira de Souza, X Estivill. The EUROGEM Map of Human Chromosome 21. European Journal of Human Genetics ,1994; 2:244-245.
A Bosch, S Wiemann, J Guimerà, W Ansorge, D Patterson, X Estivill. Two dinucleotide repeat polymorphisms at the 21q22.3 (D21S416 and D21S1235). Human Molecular Genetics, 1993; 10:1744.
PATENTS
TITLE OF INVENTION: “A new human gene sequence of the Down syndrome critical region of human chromosome 21, coding for a serine-threonine protein kinase (MNB), expressed in the neuronal regions affected in Down syndrome”.
INVENTORS: Jordi Guimera et al.
SUMMARY OF THE INVENTION: We have isolated a new human gene sequence, MNB, located in the 21q22.2 region. The expression of MNB was evident in the olfactory bulb, the cerebellum, the cerebral cortex, the pyramidal cell layer of the hippocampus and several hypothalamic nuclei, coding for a serine-threonine protein kinase. The overexpression of MNB may be involved in pathogenic abnormalities of mental retardation and/or other defects in patients with Down syndrome.
Patent Nr. US6251664 B1
TITLE OF INVENTION: “Identification of a novel helix-loop-helix transcription factor”.
INVENTORS: Jordi Guimera et al.,
SUMMARY OF THE INVENTION: We have identified a novel gene referred as Medane, encoding for a transcription factor which is expressed in the neurogenic regions of the brain, correlated with the specification of the GABAergic neurons. Gain/ and loss-of-function experiments demonstrated a key function for the cell-fate induction and specification of GABAergic neurons.
Patent Nr. US20040133933 A1
BOOK CHAPTERS
T. Floss, J. Guimera. Targeted Mutagenesis. Elsevier-Reference Module in Life Sciences. 2017. doi.org/10.1016/B978-0-12-809633-8.07240-X.
T. Floss, J. Guimera. Genetic Nomenclature. Elsevier-Reference Module in Life Sciences. 2017. doi.org/10.1016/B978-0-12-809633-8.06470-0.
T. Floss & J. Guimera. Targeted Mutagenesis. Brenner's Encyclopedia of Genetics (Second Edition). 2013. Pages 12-16.
J. Guimera & T. Floss. Genetics Nomenclature. Brenner's Encyclopedia of Genetics (Second Edition). 2013. Pages 271-275.