Publications

Stefano Colella's Publications

INTRO

Research in mechanism of plant virus transmission by vectors (2023-present)

1 peer-reviewed paper

• Cayrol B, Colella S*, Uzest M*. Coupling clearing and hybridization chain reaction approaches to investigate gene expression in organs inside intact insect heads. Microsc Res Tech. Apr 1. doi: 10.1002/jemt.24561, 2024. [PubMed][Microsc Res Tech - Open Access]

• Fu Y, Deshoux M, Cayrol B, Le Blaye S, Achard E, Hudaverdian S, Cloteau R, Pichon E, Strozyk E, Prunier-Leterme N, Jousselin E, Sauvion N, Thébaud G, Le Trionnaire G, Colella S$, Uzest M$. Stylet cuticular gene-directed mutagenesis impairs the pea aphid vector capacity to transmit a plant virus. PLoS Pathog. May 23;21(5):e1013192. doi: 10.1371/journal.ppat.1013192, 2025. [PubMed][PLoS Pathog - Open Access] 

Pre-print open access publications

• Cayrol B, Colella S*, Uzest M*. Coupling clearing and hybridization chain reaction approaches to investigate gene expression in organs inside intact insect heads.  Authorea. April 18, 2024. doi: 10.22541/au.171347062.26544182/v1 [Authorea - open acces]. Published in Microsc Res Tech. doi: 10.1002/jemt.24561

Research in plants - microorganisms symbiosis (2016-2022)

7 peer-reviewed papers

• Boivin S, Ait Lahmidi N, Sherlock D, Bonhomme M, Dijon D, Heulin-Gotty K, Le-Queré A, Pervent M, Tauzin M, Carlsson G, Jensen E, Journet EP, Lopez-Bellido R, Seidenglanz M, Marinkovic J, Colella S, Brunel B, Young P, Lepetit M. Host-specific competitiveness to form nodules in Rhizobium leguminosarum symbiovar viciae. New Phytol. Dec 24. doi: 10.1111/nph.16392, 2019. [PubMed][New Phytol-Open Access]

• Lambert I, Pervent M, Le-Queré A, Clement G, Tuzin M, Severac D, Benezech C, Tillard P, Martin Magniette ML, Colella S, Lepetit M. Responses of Mature Symbiotic Nodules to the Whole Plant Systemic Nitrogen Signaling. J Exp Bot. May 9. doi: 10.1093/jxb/eraa221, 2020. [PubMed][J Exp Bot - Open Access]

• Lambert I, Paysant-Le Roux C, Colella S, Martin Magniette ML. DiCoExpress: a tool to process multifactorial RNAseq experiments from quality controls to co-expression analysis through differential analysis based on contrasts inside GLM models. Plant Methods vol.16, 68. https://doi.org/10.1186/s13007-020-00611-7 , 2020. [PubMed] [Plant Methods - Opens Access]

• Duong B, Nguyen HX, Phan HV, Colella S, Trinh PQ, Hoang GT, Nguyen TT, Marraccini P, Lebrun M, Duponnois R. Identification and characterization of Vietnamese coffee bacterial endophytes displaying in vitro antifungal and nematicidal activities. Microbiol Res. Sept 27 doi: 10.1016/j.micres.2020.126613, 2020 [PubMed] [Microbiol Res.]

• Pervent M, Lambert I, Tuzin M, Karouani A, Severac D, Nigg M, Jardinaud M-F, Colella S, Martin Magniette ML, Lepetit M.  Systemic control of nodule formation by plant nitrogen demand requires autoregulation-dependent and independent mechanisms. J Exp Bot. Dec 4;72(22):7942-7956. doi: 10.1093/jxb/erab374, 2021.  [PubMed][J Exp Bot]

• Baudry K, Paysant-Le Roux C, Colella S, Castandet B , Martin Magniette ML. Analyzing Multifactorial RNA-Seq Experiments with DicoExpress. J Vis Exp. Jul 29;(185), 2022. doi: 10.3791/62566.  [PubMed] [JoVE]

• Martin ML, Pervent M, Lambert I, Colella S, Tancelin M, Severac D, Clement G, Tillard P, Lepetit M. Localized osmotic stress activates systemic responses to N limitation in Medicago truncatula-Sinorhizobium symbiotic plants. Front Plant Sci Nov 20: 14: 1288070, 2023. doi: 10.3389/fpls.2023.1288070. [PubMed][Front Plant Sci]

Pre-print open access publications

• Pervent M, Lambert I, Tuzin M, Karouani A, Severac D, Nigg M, Jardinaud M-F, Colella S, Martin Magniette ML, Lepetit M.  Autoregulation dependent and independent mechanisms are responsible for the systemic control of nodule formation by the plant N demand. bioRxiv 2021.02.03.429583 , February 03, 2021. doi: https://doi.org/10.1101/2021.02.03.429583 [bioRXiv - open acces]. Published in J Exp Bot doi: 10.1093/jxb/erab374

Research in arthropods symbiosis (2007-2016)

While working in the BF2I laboratory on the pea aphid symbiosis I was involved in several collaborative project in the team and beyond. My main effort was concentrated on the genomics approaches that lead to novel working hypothesis and further functional genomics studies. Furthermore, I had a change to develop new skills in genome annotation leading the development of CycADS an annotation pipeline and management system that allowed the generation of the ArthropodaCyc database (a  collection of BioCyc metabolism databases of sequenced arthropods). The annotation tools we developed allowed us to contribute to a few i5k arthropods genome projects.

16 peer-reviewed papers

• Brinza L, Viñuelas J, Cottret L, Calevro F, Rahbé Y, Febvay G, Duport G, Colella S, Rabatel A, Gautier C, Fayard JM, Sagot MF and Charles H. Systemic analysis of the symbiotic function of Buchnera aphidicola, the primary endosymbiont of the pea aphid Acyrthosiphon pisum. C. R. Biol. 332(11):1034-49, 2009. [PubMed]

• International Aphid Genomics Consortium. Genome sequence of the pea aphid Acyrthosiphon pisum. PLoS Biol. Feb 23;8(2):e1000313, 2010.[PubMed] [PLoS Biology - Open Access]

• Wilson AC, Ashton PD, Calevro F, Charles H, Colella S, Febvay G, Jander G, Kushlan PF, Macdonald SJ, Schwartz JF, Thomas GH, Douglas AE. Genomic insight into the amino acid relations of the pea aphid, Acyrthosiphon pisum, with its symbiotic bacterium Buchnera aphidicola. Insect Mol Biol. 19 Suppl 2:249-58, 2010. [PubMed]

• Tagu D, Dugravot S, Outreman Y, Rispe C, Simon JC, Colella S. The anatomy of an aphid genome: from sequence to biology. C. R. Biol. 333(6-7):464-73, 2010. [PubMed]

• Vellozo AF, Véron AS, Baa-Puyoulet P, Huerta-Cepas J, Cottret L, Febvay G, Calevro F, Rahbé Y, Douglas AE, Gabaldón T, Sagot MF, Charles H and Colella S. CycADS: an annotation database system to ease the development and update of BioCyc databases. Database, doi: 10.1093/database/bar008, 2011. [PubMed] [Database - Open Access]

• Viñuelas J, Febvay G, Duport G, Colella S, Fayard J-M, Charles H, Rahbé Y, Calevro F. Multimodal dynamic response of the Buchnera aphidicola pLeu plasmid to variations in leucine demand of its host, the pea aphid Acyrthosiphon pisum. Mol Microbiol. Jul 28. doi: 10.1111/j.1365-2958.2011.07760.x. 2011. [PubMed]

• Charles H, Balmand S, Lamelas A, Cottret L, Pérez-Brocal V, Burdin B, Latorre A, Febvay G, Colella S, Calevro F and Rahbé Y. A genomic reappraisal of symbiotic function in the aphid/Buchnera symbiosis: reduced transporter sets and variable membrane organisations. PLoS One 6(12):e29096, 2011. [PubMed] [PLoS One - Open Access]

• Rabatel A, Febvay G, Gaget K, Duport G, Baa-Puyoulet P, Sapountzis P, Bendridi N, Rey M, Rahbé Y, Charles H, Calevro F$ and Colella S$. Tyrosine pathway regulation is host-mediated in the pea aphid symbiosis during late embryonic and early larval development. BMC Genomics. 2013 Apr 10;14(1):235, 2013. [PubMed] [BMC Genomics - Open Access]

• Sapountzis P, Duport G, Balmand S, Gaget K, Jaubert-Possamai S, Febvay G, Charles H, Rahbé Y, Colella S$ and Calevro F$. New insight into the RNA interference response against cathepsin-L gene in the pea aphid, Acyrthosiphon pisum: molting or gut phenotypes specifically induced by injection or feeding treatments. Insect Biochem Mol Biol. Aug 51:20-32, 2014.[PubMed] [Insect Biochem Mol Biol - Open Access]

• Simonet P, Duport G, Gaget K, Weiss-Gayet M, Colella S, Febvay G, Charles H, Viñuelas J, Heddi A, Calevro F. Direct flow cytometry measurements reveal a fine-tuning of symbiotic cell dynamics according to the host developmental needs in aphid symbiosis. Sci Rep. Jan 29;6:19967. doi: 10.1038/srep19967, 2016. [PubMed][Sci Rep - Open Access]

• Baa-Puyoulet P, Parisot N, Febvay G, Huerta-Cepas J, Vellozo AF, Gabaldon T, Calevro F, Charles H and Colella S. ArthropodaCyc: a CycADS powered collection of BioCyc databases to analyse and compare metabolism of arthropods. Database, doi: 10.1093/database/baw081, 2016. [Database - Open Access]

• Simonet P, Gaget K, Parisot N, Duport G, Rey M, Febvay G, Charles H, Callaerts P, Colella S and Calevro F. Disruption of phenylalanine hydroxylase reduces adult lifespan and fecundity, and impairs embryonic development in parthenogenetic pea aphids. Sci Rep. Oct 3;6:34321. doi: 10.1038/srep34321, 2016.[PubMed] [Sci Rep - Open Access]

• Mathers TC,* Chen Y,* Kaithakottil G, Legeai F, Mugford ST, Baa-Puyoulet P, Bretaudeau A, Clavijo B, Colella S, Collin O, Dalmay T, Derrien T, Feng H, Gabaldón T, Jordan A, Julca I, Kettles GJ, Kowitwanich K, Lavenier D, Lenzi P, Lopez-Gomollon S, Loska D, Mapleson D, Maumus F, Moxon S, Price DRG, Sugio A, van Munster M, Uzest M, Waite D, Jander G, Tagu D, Wilson ACC, van Oosterhout C, Swarbreck D,^^ Hogenhout SA.^^ Rapid transcriptional plasticity of duplicated gene clusters enables a clonally reproducing aphid to colonise diverse plant species. Genome Biol. Feb 13;18(1):27. doi: 10.1186/s13059-016-1145-3, 2017. [PubMed] [Genome Biology - open access]

• Colella S*$ , Parisot N*, Simonet P, Gaget K, Duport G, Baa-Puyoulet P, Rahbé Y, Charles H, Febvay G, Callaerts P and Calevro F.$ Bacteriocyte reprogramming to cope with nutritional stress in a phloem sap feeding hemipteran, the pea aphid Acyrthosiphon pisum. Front. Physiol. Oct 25;9:1498. doi: 10.3389/fphys.2018.01498, 2018. [PubMed][Frontiers - open access]

• Panfilio KA, Vargas Jentzsch IM, Benoit JB, Erezyilmaz D, Suzuki Y, Colella S, Robertson HM, Poelchau MF, Waterhouse RM, Ioannidis P, Weirauch MT, Hughes DST, Murali SC, Werren JH, Jacobs CGC, Duncan EJ, Armisén D, Vreede BMI, Baa-Puyoulet P, Berger CS, Chang C-C, Chao H, Chen M-JM, Chen Y-T,  Childers CP, Chipman AD, Cridge AG, Crumière AJJ, Dearden PK, Didion EM, Dinh H, Doddapaneni H, Dolan A, Dugan S, Extavour CG, Febvay G, Friedrich M, Ginzburg N, Han Y, Heger P, Holmes CJ, Horn T, Hsiao Y-M, Jennings EC, Johnston JS, Jones TE, Jones JW, Khila A, Koelzer S, Kovacova V, Leask M, Lee SL, Lee C-Y, Lovegrove MR, Lu H-L, Lu Y, Moore PJ, Munoz-Torres MC, Muzny DM, Palli SR, Parisot N, Pick L, Porter M, Qu J, Refki PN, Richter R, Rivera-Pomar R, Rosendale AJ, Roth S, Sachs L, Santos ME, Seibert J,Sghaier E, Shukla JN, Stancliffe RJ, Tidswell O, Traverso L, van der Zee M, Viala S, Worley KC, Zdobnov EM, Gibbs RA, Richards S. Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. Genome Biol. Apr 2; 20:64. doi: 10.1186/s13059-019-1660-0,  2019. [PubMed] [Genome Biology - open access] 

• Parisot N*, Vargas-Chavez C*, Goubert C*, Baa-Puyoulet P, Balmand S, Béranger L, Blanc C, Bonnamour A, Boulesteix M, Burlet N, Calevro F, Callaerts P, Chancy T, Charles H, Colella S, Da Silva Barbosa A, Dell'Aglio E, Di Genova A, Febvay A, Gabaldon T, Galvão Ferrarini M, Gerber A, Gillet B, Hubley R, Hughes S, Jacquin-Joly E, Maire J, Marcet-Houben M, Masson F, Meslin C, Montagné N, Moya A, Ribeiro de Vasconcelos AT, Richard G, Rosen J, Sagot M-F, Smit AFA, Storer J, Vincent-Monégat C, Vallier A, Vigneron A, Zaidman-Rémy A, Zamoum W, Vieira C*, Rebollo R*, Latorre A*, Heddi A.*  The transposable element-rich genome of the cereal pest Sitophilus oryzae. BMC Biol. Nov 9;19(1):241. doi: 10.1186/s12915-021-01158-2, 2021.  [PubMed] [BMC Biology - open access] 

Book chapter

• Tagu D, Calevro F, Colella S, Gabaldón T, Sugio A. Chapter 3: Functional and evolutionary genomics in aphids. BIOLOGY & ECOLOGY OF APHIDS, Andreas Vilcinskas Editor, Taylor & Francis Group. March 10, 2016 [CRC Press]

Pre-print open access publications

• Mathers TC*, Chen Y*, Kaithakottil G, Legeai F, Mugford ST, Baa-Puyoulet P, Bretaudeau A, Clavijo B, Colella S, Collin O, Dalmay T, Derrien T, Feng H, Gabaldón T, Jordan A, Julca I, Kettles GJ, Kowitwanich K, Lavenier D, Lenzi P, Lopez-Gomollon S, Loska D, Mapleson D, Maumus F, Moxon S, Price DRG, Sugio A, van Munster M, Uzest M, Waite D, Jander G, Tagu D, Wilson ACC, van Oosterhout C, Swarbreck D ^^, Hogenhout SA^^. Rapid transcriptional plasticity of duplicated gene clusters enables a clonally reproducing aphid to colonise diverse plant species.bioRxiv 063610, July 19, 2016. doi: https://doi.org/10.1101/063610 [bioRXiv - open acces]. Published in Genome Biology doi: 10.1186/s13059-016-1145-3

• Panfilio KA, Vargas Jentzsch IM, Benoit JB, Erezyilmaz D, Suzuki Y, Colella S, Robertson HM, Poelchau MF, Waterhouse RM, Ioannidis P, Weirauch MT, Hughes DST, Murali SC, Werren JH, Jacobs CGC, Duncan EJ, Armisén D, Vreede BMI, Baa-Puyoulet P, Berger CS, Chang C-C, Chao H, Chen M-JM, Chen Y-T,  Childers CP, Chipman AD, Cridge AG, Crumière AJJ, Dearden PK, Didion EM, Dinh H, Doddapaneni H, Dolan A, Dugan-Perez S, Extavour CG, Febvvay G, Friedrich M, Ginzburg N, Han Y, Heger P, Horn T, Hsiao Y-M, Jennings EC, Johnston JS, Jones TE, Jones JW, Khila A, Koelzer S, Kovacova V, Leask M, Lee SL, Lee C-Y, Lovegrove MR, Lu H-L, Lu Y, Moore PJ, Munoz-Torres MC, Muzny DM, Palli SR, Parisot N, Pick L, Porter M, Qu J, Refki PN, Richter R, Rivera-Pomar R, Rosendale AJ, Roth S, Sachs L, Santos ME, Seibert J,Sghaier E, Shukla JN, Stancliffe RJ, Tidswell O, Traverso L, van der Zee M, Viala S, Worley KC, Zdobnov EM, Gibbs RA, Richards S.  Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. bioRxiv 201731 (v3), October 31, 2018. doi: https://doi.org/10.1101/201731  [bioRXiv - open acces]. Published in Genome Biology doi: 10.1186/s13059-019-1660-0

• Parisot N*, Vargas-Chavez C*, Goubert C*, Baa-Puyoulet P, Balmand S, Béranger L, Blanc C, Bonnamour A, Boulesteix M, Burlet N, Calevro F, Callaerts P, Chancy T, Charles H, Colella S, Da Silva Barbosa A, Dell'Aglio E, Di Genova A, Febvay A, Gabaldon T, Galvão Ferrarini M, Gerber A, Gillet B, Hubley R, Hughes S, Jacquin-Joly E, Maire J, Marcet-Houben M, Masson F, Meslin C, Montagné N, Moya A, Ribeiro de Vasconcelos AT, Richard G, Rosen J, Sagot M-F, Smit AFA, Storer J, Vincent-Monégat C, Vallier A, Vigneron A, Zaidman-Rémy A, Zamoum W, Vieira C*, Rebollo R*, Latorre A*, Heddi A.*  The genome sequence of the cereal pest Sitophilus oryzae: an unprecedented transposable element content. bioRxiv 2021.03.03.408021; doi: https://doi.org/10.1101/2021.03.03.408021 [bioRXiv - open acces]. Published in BMC Biology doi: 10.1186/s12915-021-01158-2

Postdoctoral work in genomics: back to human genetics (2004-2007)

These publications are the fruit of the diverse research projects I was involved with while working at the Wellcome Trust Centre for Human Genetics (University of Oxford) in the Genomics Laboratory lead by Jiannis Ragoussis. The time in Oxford was a great learning experience and gave me the opportunity to develop further technical and analytical skills, as well as the possibility to broaden my research skills thanks to the different projects I contributed to in collaboration with other scientists.

9 peer-reviewed papers

• Lai MI, Jiang J, Silver N, Best S, Menzel S, Mijovic A, Colella S, Ragoussis J, Garner C, Weiss MJ and Thein SL. AHSP is a quantitative trait gene that modifies the phenotype of β thalassaemia. Br J Haematol. Jun;133(6):675-82, 2006 [PubMed]

• Ragoussis J, Elvidge GP, Kaur K, Colella S. Matrix assisted laser desorption/ionisation, time-of-flight mass spectrometry in Genomics Research. PLoS Genet. 2(7): e100, 2006. [PubMed][PLoS Genetics - Open Access]

• Colella S,* Yau C,* Taylor JM, Mirza G, Butler H, Clouston P, Basset AS, Seller A, Holmes C and Ragoussis, J. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Research, 35(6):2013-2025, 2007. [PubMed][Nucleic Acids Res – Open Access]

• Francks C, Maegawa S, Laurén J, Abrahams B, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, Nicod J, Xiong L, Joober R, Enard W, Krinsky B, Nanba E, Richardson AJ, Riley BP, Martin NG, Strittmatter SM, Möller H-J, Rujescu D, St Clair D, Muglia P, Roos JL, Fisher SE, Wade-Martins R, Rouleau GA, Stein JF, Karayiorgou M, Geschwind DH, Ragoussis J, Kendler KS, Airaksinen MS, Oshimura M, DeLisi LE and Monaco AP. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol. Psychiatry, Dec;12(12):1129-39,1057, 2007. [PubMed]

• Camps C, Buffa FM, Colella S, Moore J, Sheldon H, Harris AL, Gleadle J and Ragoussis J. hsa-mi-R210 hypoxic induction is an independent prognostic predictor in breast cancer. Clin Cancer Res., Mar 1;14(5):1340-8, 2008. [PubMed]

• Giannoulatou E, Yau C, Colella S, Ragoussis J, Holmes CC. GenoSNP: a Variational Bayes within-sample SNP genotyping algorithm that does not require a reference population. Bioinformatics, Oct 1;24(19):2209-14, 2008 [PubMed]

• Gee HE, Camps C, Buffa FM, Colella S, Sheldon H, Gleadle JM, Ragoussis J, Harris AL. MicroRNA-10b and breast cancer metastasis. Nature. Oct 23;455(7216) 2008 [PubMed]

• Jefferson A, Colella S, Moralli D, Wilson N, Yusuf M, Gimelli G, Ragoussis J, Volpi EV. Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome. PLoS ONE 5(6): e11364, 2010 [PLoS ONE - open access]

• Yau C, Mouradov D, Jorissen RN, Colella S, Mirza G, Steers G, Harris A, Ragoussis J, Sieber O, Holmes CC. A statistical approach for detecting genomic aberrations in heterogeneous tumor samples from single nucleotide polymorphism genotyping data.  Genome Biol. Sep 21;11(9):R92. (Epub ahead of print), 2010 [PubMed] [Genome Biology - open access]

Postdoctoral training in cancer genomics (2000-2004)

These papers are  all related to the  work done while working in Ralf Krahe's laboratory, they include both primary research of the laboratory and collaborations projects at M.D. Anderson Cancer Center. During my time in the USA I had a chance to learn a lot about transcriptome analysis and my main project was on the study of head and neck cancer. Furthermore during this period I started to be interested in epigenetic and in the lab we developed "PyroMethA",  a technique for quantitative DNA methylation analysis using Pyrosequencing technology.

6 peer-reviewed papers

• Colella S, Shen L, Baggerly KA, Issa JP and Krahe R. Sensitive and Quantitative Universal PyrosequencingTM Methylation Analysis of CpG sites. Biotechniques 35: 146-150, 2003. [PubMed]

• Ruteshouer EC, Hendrickson BW, Colella S, Krahe R, Pinto L and Huff V. Genome-wide LOH analysis of WT1-wildtype and WT1-mutant Wilms tumors. Genes, Chromosomes and Cancer 43:172-180, 2005. [PubMed]

• Simeone A-M, Colella S, Krahe R, Johnson M, Mora M and Tari A. N-(4-hydroxyphenyl)retinamide and nitric oxide pro-drugs exhibit apoptotic and anti-invasive effects against bone metastatic breast cancer cells. Carcinogenesis Mar;27(3):568-77, 2006. [PubMed]

• Simeone A-M, Nieves-Alicea R, McMurtry VC, Colella S, Krahe R, and Tari A. Cyclooxygenase-2 uses the protein kinase C/interleukin-8/urokinase-type plasminogen activator pathway to increase the invasiveness of breast cancer cells. Int J Oncol. Apr;30(4):785-92, 2007. [PubMed]

• Colella S, Richards JL, Bachinski LL, Baggerly KA, Tsavachidis S, Lang JD, Schuller DE and Krahe R. Molecular signatures of metastasis in head and neck cancer. Head and Neck, Oct;30(10):1273-83, 2008 [PubMed]

• Richards KL, Zhang B, Baggerly KA, Colella S, Lang JC, Schuller DE, Krahe R. Genome-wide hypomethylation in head and neck cancer is more pronounced in HPV-negative tumors and is associated with genomic instability. PLoS ONE 4(3):e4941, 2009 [PubMed] [PLoS ONE - open access]

First post-doctoral experience in cancer research (1998-2000)

These four paper are the fruit of the work done while working at the International Agency for Research on Cancer (WHO) in Lyon. My main project was the characterization of mutations of the protein phosphatase 2A gene in brain tumors. I was also much involved in the first lab macroarrays study of atrocytoma (Huang et al.) and contributed to other genotyping and mutation detection projects.

4 peer-reviewed papers

• Fujisawa H, Reis RM, Nakamura M, Colella S, Yonekawa Y, Kleihues P and Ohgaki H. Loss of heterozygosity on chromosome 10 is more extensive in primary (de novo) than in secondary glioblastomas. Lab. Invest. 80: 65-72, 2000. [PubMed]

• Huang H, Colella S, Kurrer M, Yonekawa Y, Kleihues P and Ohgaki H. Gene expression profiling of low-grade diffuse astrocytomas by cDNA arrays. Cancer Res. 60: 6868-74, 2000. [PubMed]

• Reis RM, Nakamura M, Masuoka J, Watanabe T, Colella S, Yonekawa Y, Kleihues P and Ohgaki H. Mutation analysis of hBUB1, hBUBR1 and hBUB3 genes in glioblastomas. Acta Neuropathol. (Berl) 101: 297-304, 2001. [PubMed]

• Colella S, Ohgaki H, Ruediger R, Yang F, Nakamura M, Fujisawa H, Kleihues P and Walter G. Reduced expression of the Aalpha subunit of protein phosphatase 2A in human gliomas in the absence of mutations in the Aalpha and Abeta subunit genes. Int. J. Cancer. 93: 798-804, 2001. [PubMed]

Thesis work on Nucleotide Excision Repair Syndromes (1996-1998)

These three paper contain most of my thesis work and they are focused on the molecular characterization of human syndromes associated with defects in the Nucleotide Excision Repair (NER). The gene mutations iodentified in patients affected by Cockayne Syndrome are described and genotype-phenotype relashionships discussed. 

3 peer-reviewed papers

• Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M and Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am. J. Hum. Genet. 62: 77-85, 1998. [PubMed]

• Colella S, Nardo T, Mallery DL, Borrone C, Ricci R, Ruffa G, Lehmann AR and Stefanini M. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum. Mol. Genet. 8: 935-41, 1999. [PubMed]

• Colella S, Nardo T, Botta E, Lehmann AR and Stefanini M. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum. Mol. Genet. 9: 1171-5 , 2000. [PubMed]

First years training in human genetics (1994-1995)

2 peer-reviewed papers

• Grasso M, Perroni L, Colella S, Piombo G, Argusti A, Lituania M, Buscaglia M, Giussani U, Grimoldi MG and Bricarelli FD. Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome. Am. J. Med. Genet. 64: 187-90, 1996. [PubMed]

  The very first paper describing part of the work on Fragile X Syndrome, the basis of my undergraduate thesis. Great memories of two years for the first time working in the Lab!

• Scartezzini P, Egeo A, Colella S, Fumagalli P, Arrigo P, Nizetic D, Taramelli R and Rasore-Quartino A. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. Hum. Genet. 99: 387-92, 1997. [PubMed]

The paper describes the cloning of the SH3BGR gene on chromosome 21q22: one of the most fun research project I took part in. cDNA selection using Yeast Artificial Chromosomes to clone new genes is something most people today will not even know about, but for me it was a great learning experience.

  * These authors contributed equally to this work. $ Co-senior corresponding authors.