Dr. Maria Chiara Pelleri
PERSONAL DETAILS
Name Maria Chiara Pelleri
Date of Birth May 27, 1983
Place of Birth Ravenna, Italy
E-mail mariachiara.pelleri2@unibo.it
EDUCATION
04/2011 PhD, Science of human development and movement,
University of Bologna, Italy
04/2009 Foreign experience as PhD student, Queen Mary University of London, UK, Prof. Greg Elgar lab
10/2007 M.D. Medical Biotechnology, University of Bologna, Italy
09/2005 B.S. Biotechnology
A. Personal Statement
My long term research interests involve the development of a comprehensive understanding of the underlying genetic mechanisms of Down syndrome with the ultimate goal of identifying possible new therapeutic approaches.
My academic training and research experience have provided me with an excellent background in multiple biological disciplines including molecular biology, genetics and bioinformatics.
In particular, during my PhD and first years as a Post-Doc, I was published in the field of genomics, developing innovative and integrated approaches for structural and functional characterization of the human genome, with particular attention to human chromosome 21.
In the last five years, my research interest focused on Down syndrome and I have been involved in a project led by Prof. Pierluigi Strippoli with the goal of identifying new therapeutic targets for intellectual disability in DS.
In particular, I have contributed to the draft of the project, with the coordination of the procedures for Ethics Committee Approval. Then, my research focused on a systematic analysis of partial trisomy 21 cases with or without DS. A highly restricted DSCR (HR-DSCR) of only 34 kb on distal 21q22.13 was identified as the minimal region whose duplication is shared by all DS subjects and is absent in all non-DS subjects. HR-DSCR is proposed as a candidate for the typical DS features, the intellectual disability and some facial phenotypes. My current research consists in searching for HR-DSCR functional loci for understanding the fundamental genotype-phenotype relationships in DS.
B. Positions Positions and Employment
2021-present Associate Professor, DIBINEM, University of Bologna, Italy
Academic discipline: BIO/13 Applied Biology
2018-2021 Senior assistant professor, DIMES, University of Bologna, Italy
Academic discipline: BIO/13 Applied Biology
2017-2018 Junior assistant professor, DIMES, University of Bologna, Italy
Academic discipline: BIO/13 Applied Biology
2015-2017 Post-Doc, Tutor Prof. Pierluigi Strippoli, University of Bologna, Italy
2008-2015 Post-Doc, Tutor Prof. Flavia Frabetti, University of Bologna, Italy
Career disruption
17 November 2019 – 18 April 2020 Maternity leave
16 June 2014 – 23 November 2014 Maternity leave
18 August 2012 – 23 January 2013 Maternity leave
06 November 2010 – 06 April 2011 Maternity leave
Other Experience and Professional Memberships
2017-present Lecturer, Applied Biology and Genetics
Single cycle degree in Medicine and Surgery, University of Bologna, Italy
Bachelor’s Degree in Professional Education, School of Medicine, University of Bologna
Bachelor’s Degree in Dietetics, School of Medicine, University of Bologna
2013-2014 Lecturer, Genetics
Bachelor’s Degree in Nursing, School of Medicine, University of Bologna
2012-present Teaching Assistant in the exam boards for Biology and Genetics classes, Single cycle degree programs in Medicine and Surgery, School of Medicine, University of Bologna
2012-present Co-supervisor of 5 theses (B.Sc, M.Sc., Medicine and Surgery)
2008-2017 Tutor, Biology and Genetics laboratory, Single cycle degree programs in Medicine and Surgery, School of Medicine, University of Bologna
2015-present Member, Associazione Italiana di Biologia e Genetica (A.I.B.G.)
2016-present Member, European Society of Human Genetics (ESHG)
2016-present Member, Trisomy 21 Research Society (T21RS)
C. Contribution to Science
During my PhD period and then as a Post-Doc (Tutor Prof. Flavia Frabetti), my research interests were focused on structural and functional characterization of new human genes with particular attention to human chromosome 21 (Hsa21) genes.
During this period, I became competent in the development and usage of innovative computational biology tools for structural characterization of genomic regions (Casadei et al., Genomics, 2012; Piovesan et al., Genomics, 2013; Piovesan et al., Mamm. Genome, 2014) and meta-analysis of data (Lenzi et al., BMC Genomics, 2011). I performed molecular biology experiments (nucleic acid extraction, RT-PCR, Real-time PCR) and cell cultures for structural characterization and gene expression studies related to new genes on Hsa21 (Facchin et al. PloS One, 2011; Casadei et al., Mol. Biol. Rep., 2014).
I acquired experience in functional genomics techniques applied to Zebrafish (Danio rerio): molecular biology experiments (RNA extraction from Zebrafish embryos and tissues; RT-PCR) were performed for the identification of ideal housekeeping genes in Zebrafish (Casadei et al., Gene Expr Patterns, 2011), while microinjection techniques were applied to Zebrafish embryos for the analysis of conserved non-coding elements (CNEs) associated with vertebrate development (Doglio et al., PloS Genet., 2013). Currently, my expertise in using Zebrafish is applied to functional genomics experiments for the purpose of characterizing Hsa21 genes involved in complex diseases.
Finally, I was involved in a systematic study presenting an estimation of human total cell number (3.72±0.81x1013) (Bianconi et al., Annals of Human Biology, 2013). The results provide for the first time a reference point for studies of biology and human disease.
Under the guidance of Prof. Strippoli, I have recently started a new project as a Post-Doc, directing my knowledge in the field of genomics to the specific topic of Down Syndrome.
I am experienced and competent in research design: I have actively participated in drafting the project (Strippoli et al., Science PostPrint, 2013) and I have managed the research project submission to the Ethics Committee of the Policlinico S. Orsola-Malpighi in Bologna which gave their approval in July 2013.
I have extensive experience in bioinformatics tools used for structural characterization of genomic regions (Piovesan et al., DNA Res., 2015; Piovesan et al., Database (Oxford), 2016; Vitale et al., Int J Mol Med. 2017) and gene expression meta-analysis, with particular attention to Hsa21 genes (Pelleri et al., BMC Med. Genomics, 2014; Caracausi et al., Neurogenetics, 2014; Caracausi et al., Hippocampus, 2016; Mariani et al., PLoS One, 2016; Caracausi et al., J. Cell Physiol., 2017; Caracausi et al., Mol Med Rep, 2017; Vitale et al., BMC Genomics, 2017)
To validate the results, independent confirmation by Real-Time reverse transcription polymerase chain reaction (RT-PCR) was performed.
Recently, I have focused my interests on a systematic meta-analysis of all reported partial trisomy 21 cases. The study supported the idea that not all Hsa21 loci are required for the manifestation of DS, rather suggesting a small region on 21q22.13 (highly restricted Down Syndrome critical region, HR-DSCR) as critical to the DS core phenotype (intellectual disability and facies) (Pelleri et al., Hum. Mol. Genet., 2016). This result paves the way for the research, in this region, of genes associated to Down syndrome, the function of which might become the target for specific therapy.
Moreover, the same framework can be used for the research of genotype-phenotype correlations regarding other signs and symptoms. We have published an analysis of PT21 cases for the identification of critical regions on Hsa21 associated to congenital heart disease (CHD) in DS, one of the most frequent comorbidities in DS (Pelleri et al., Genomics, 2017).
Finally, an important collaboration with one of the leading groups in Italy in the field of metabolomics (Prof. Paola Turano, CERM, University of Florence, Italy) allowed us to publish the first study of metabolomics through Nuclear Magnetic Resonance (NMR) applied to plasma and urine samples of 67 DS subjects and 29 control subjects (Caracausi et al., Sci Rep, 2018). Our study reveals that DS subjects present some alterations in metabolic pathways, in particular, several significantly altered metabolites are produced at the beginning or during the Krebs cycle. The NMR approach used resulted extremely powerful in providing an efficient, high-throughput untargeted picture of the metabolic fingerprint of the DS subjects.
The genetic origin of this metabolic profile possibly related to the HR-DSCR and correlations with intellectual disability in DS are still under investigation.
Complete List of Published Work:
1: Antonaros F, Ghini V, Pulina F, Ramacieri G, Cicchini E, Mannini E, Martelli
A, Feliciello A, Lanfranchi S, Onnivello S, Vianello R, Locatelli C, Cocchi G,
Pelleri MC, Vitale L, Strippoli P, Luchinat C, Turano P, Piovesan A, Caracausi
M. Plasma metabolome and cognitive skills in Down syndrome. Sci Rep. 2020 Jun
26;10(1):10491. doi: 10.1038/s41598-020-67195-z. PMID: 32591596; PMCID:
PMC7319960.
2: Mazzola M, Pezzotta A, Fazio G, Rigamonti A, Bresciani E, Gaudenzi G, Pelleri
MC, Saitta C, Ferrari L, Parma M, Fumagalli M, Biondi A, Cazzaniga G, Marozzi A,
Pistocchi A. Dysregulation of NIPBL leads to impaired RUNX1 expression and
haematopoietic defects. J Cell Mol Med. 2020 Jun;24(11):6272-6282. doi:
10.1111/jcmm.15269. Epub 2020 Apr 23. PMID: 32323916; PMCID: PMC7294146.
3: Pelleri MC, Cicchini E, Petersen MB, Tranebjaerg L, Mattina T, Magini P,
Antonaros F, Caracausi M, Vitale L, Locatelli C, Seri M, Strippoli P, Piovesan
A, Cocchi G. Partial trisomy 21 map: Ten cases further supporting the highly
restricted Down syndrome critical region (HR-DSCR) on human chromosome 21. Mol
Genet Genomic Med. 2019 Aug;7(8):e797. doi: 10.1002/mgg3.797. Epub 2019 Jun 25.
PMID: 31237416; PMCID: PMC6687668.
4: Piovesan A, Antonaros F, Strippoli P, Vitale L, Pelleri MC, Caracausi M.
Reference quantitative transcriptome dataset for adult <i>Caenorhabditis
elegans</i>. Data Brief. 2019 Jun 13;25:104152. doi: 10.1016/j.dib.2019.104152.
PMID: 31440537; PMCID: PMC6700341.
5: Piovesan A, Antonaros F, Vitale L, Strippoli P, Pelleri MC, Caracausi M.
Human protein-coding genes and gene feature statistics in 2019. BMC Res Notes.
2019 Jun 4;12(1):315. doi: 10.1186/s13104-019-4343-8. PMID: 31164174; PMCID:
PMC6549324.
6: Vitale L, Piovesan A, Antonaros F, Strippoli P, Pelleri MC, Caracausi M.
Dataset of differential gene expression between total normal human thyroid and
histologically normal thyroid adjacent to papillary thyroid carcinoma. Data
Brief. 2019 Mar 15;24:103835. doi: 10.1016/j.dib.2019.103835. PMID: 31049370;
PMCID: PMC6479735.
7: Antonaros F, Olivucci G, Cicchini E, Ramacieri G, Pelleri MC, Vitale L,
Strippoli P, Locatelli C, Cocchi G, Piovesan A, Caracausi M. MTHFR C677T
polymorphism analysis: A simple, effective restriction enzyme-based method
improving previous protocols. Mol Genet Genomic Med. 2019 May;7(5):e628. doi:
10.1002/mgg3.628. Epub 2019 Mar 13. PMID: 30868767; PMCID: PMC6503068.
8: Piovesan A, Pelleri MC, Antonaros F, Strippoli P, Caracausi M, Vitale L. On
the length, weight and GC content of the human genome. BMC Res Notes. 2019 Feb
27;12(1):106. doi: 10.1186/s13104-019-4137-z. PMID: 30813969; PMCID: PMC6391780.
9: Pelleri MC, Cattani C, Vitale L, Antonaros F, Strippoli P, Locatelli C,
Cocchi G, Piovesan A, Caracausi M. Integrated Quantitative Transcriptome Maps of
Human Trisomy 21 Tissues and Cells. Front Genet. 2018 Apr 24;9:125. doi:
10.3389/fgene.2018.00125. PMID: 29740474; PMCID: PMC5928158.
10: Caracausi M, Ghini V, Locatelli C, Mericio M, Piovesan A, Antonaros F,
Pelleri MC, Vitale L, Vacca RA, Bedetti F, Mimmi MC, Luchinat C, Turano P,
Strippoli P, Cocchi G. Plasma and urinary metabolomic profiles of Down syndrome
correlate with alteration of mitochondrial metabolism. Sci Rep. 2018 Feb
14;8(1):2977. doi: 10.1038/s41598-018-20834-y. PMID: 29445163; PMCID:
PMC5813015.
11: Vitale L, Piovesan A, Antonaros F, Strippoli P, Pelleri MC, Caracausi M. A
molecular view of the normal human thyroid structure and function reconstructed
from its reference transcriptome map. BMC Genomics. 2017 Sep 18;18(1):739. doi:
10.1186/s12864-017-4049-z. PMID: 28923001; PMCID: PMC5604164.
12: Caracausi M, Piovesan A, Antonaros F, Strippoli P, Vitale L, Pelleri MC.
Systematic identification of human housekeeping genes possibly useful as
references in gene expression studies. Mol Med Rep. 2017 Sep;16(3):2397-2410.
doi: 10.3892/mmr.2017.6944. Epub 2017 Jul 6. PMID: 28713914; PMCID: PMC5548050.
13: Pelleri MC, Gennari E, Locatelli C, Piovesan A, Caracausi M, Antonaros F,
Rocca A, Donati CM, Conti L, Strippoli P, Seri M, Vitale L, Cocchi G. Genotype-
phenotype correlation for congenital heart disease in Down syndrome through
analysis of partial trisomy 21 cases. Genomics. 2017 Oct;109(5-6):391-400. doi:
10.1016/j.ygeno.2017.06.004. Epub 2017 Jun 23. PMID: 28648597.
14: Vitale L, Caracausi M, Casadei R, Pelleri MC, Piovesan A. Difficulty in
obtaining the complete mRNA coding sequence at 5' region (5' end mRNA artifact):
Causes, consequences in biology and medicine and possible solutions for
obtaining the actual amino acid sequence of proteins (Review). Int J Mol Med.
2017 May;39(5):1063-1071. doi: 10.3892/ijmm.2017.2942. Epub 2017 Apr 6. PMID:
28393177.
15: Mariani E, Frabetti F, Tarozzi A, Pelleri MC, Pizzetti F, Casadei R. Meta-
Analysis of Parkinson's Disease Transcriptome Data Using TRAM Software: Whole
Substantia Nigra Tissue and Single Dopamine Neuron Differential Gene Expression.
PLoS One. 2016 Sep 9;11(9):e0161567. doi: 10.1371/journal.pone.0161567. PMID:
27611585; PMCID: PMC5017670.
16: Caracausi M, Piovesan A, Vitale L, Pelleri MC. Integrated Transcriptome Map
Highlights Structural and Functional Aspects of the Normal Human Heart. J Cell
Physiol. 2017 Apr;232(4):759-770. doi: 10.1002/jcp.25471. Epub 2016 Jul 21.
PMID: 27345625.
17: Pelleri MC, Cicchini E, Locatelli C, Vitale L, Caracausi M, Piovesan A,
Rocca A, Poletti G, Seri M, Strippoli P, Cocchi G. Systematic reanalysis of
partial trisomy 21 cases with or without Down syndrome suggests a small region
on 21q22.13 as critical to the phenotype. Hum Mol Genet. 2016 Jun
15;25(12):2525-2538. doi: 10.1093/hmg/ddw116. Epub 2016 Apr 22. PMID: 27106104;
PMCID: PMC5181629.
18: Piovesan A, Caracausi M, Antonaros F, Pelleri MC, Vitale L. GeneBase 1.1: a
tool to summarize data from NCBI gene datasets and its application to an update
of human gene statistics. Database (Oxford). 2016 Dec 26;2016:baw153. doi:
10.1093/database/baw153. PMID: 28025344; PMCID: PMC5199132.
19: Piovesan A, Caracausi M, Ricci M, Strippoli P, Vitale L, Pelleri MC.
Identification of minimal eukaryotic introns through GeneBase, a user-friendly
tool for parsing the NCBI Gene databank. DNA Res. 2015 Dec;22(6):495-503. doi:
10.1093/dnares/dsv028. Epub 2015 Nov 17. PMID: 26581719; PMCID: PMC4675715.
20: Caracausi M, Rigon V, Piovesan A, Strippoli P, Vitale L, Pelleri MC. A
quantitative transcriptome reference map of the normal human hippocampus.
Hippocampus. 2016 Jan;26(1):13-26. doi: 10.1002/hipo.22483. Epub 2015 Jul 14.
PMID: 26108741.
21: Pelleri MC, Piovesan A, Caracausi M, Berardi AC, Vitale L, Strippoli P.
Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia
(AMKL) in children with or without Down Syndrome (DS). BMC Med Genomics. 2014
Dec 5;7:63. doi: 10.1186/s12920-014-0063-z. PMID: 25476127; PMCID: PMC4304173.
22: Caracausi M, Vitale L, Pelleri MC, Piovesan A, Bruno S, Strippoli P. A
quantitative transcriptome reference map of the normal human brain.
Neurogenetics. 2014 Oct;15(4):267-87. doi: 10.1007/s10048-014-0419-8. Epub 2014
Sep 4. PMID: 25185649.
23: Casadei R, Pelleri MC, Vitale L, Facchin F, Canaider S, Strippoli P, Vian M,
Piovesan A, Bianconi E, Mariani E, Piva F, Frabetti F. Characterization of human
gene locus CYYR1: a complex multi-transcript system. Mol Biol Rep. 2014
Sep;41(9):6025-38. doi: 10.1007/s11033-014-3480-3. Epub 2014 Jul 1. PMID:
24981926.
24: Piovesan A, Caracausi M, Pelleri MC, Vitale L, Martini S, Bassani C, Gurioli
A, Casadei R, Soldà G, Strippoli P. Improving mRNA 5' coding sequence
determination in the mouse genome. Mamm Genome. 2014 Apr;25(3-4):149-59. doi:
10.1007/s00335-013-9498-3. Epub 2014 Feb 7. PMID: 24504701.
25: Doglio L, Goode DK, Pelleri MC, Pauls S, Frabetti F, Shimeld SM, Vavouri T,
Elgar G. Parallel evolution of chordate cis-regulatory code for development.
PLoS Genet. 2013 Nov;9(11):e1003904. doi: 10.1371/journal.pgen.1003904. Epub
2013 Nov 21. Erratum in: PLoS Genet. 2013 Nov;9(11).
doi:10.1371/annotation/1fc82a4b-f9ea-461a-8987-1152078688e4. PMID: 24282393;
PMCID: PMC3836708.
26: Bianconi E, Piovesan A, Facchin F, Beraudi A, Casadei R, Frabetti F, Vitale
L, Pelleri MC, Tassani S, Piva F, Perez-Amodio S, Strippoli P, Canaider S. An
estimation of the number of cells in the human body. Ann Hum Biol. 2013 Nov-
Dec;40(6):463-71. doi: 10.3109/03014460.2013.807878. Epub 2013 Jul 5. Erratum
in: Ann Hum Biol. 2013 Nov-Dec;40(6):471. PMID: 23829164.
27: Piovesan A, Vitale L, Pelleri MC, Strippoli P. Universal tight correlation
of codon bias and pool of RNA codons (codonome): The genome is optimized to
allow any distribution of gene expression values in the transcriptome from
bacteria to humans. Genomics. 2013 May;101(5):282-9. doi:
10.1016/j.ygeno.2013.02.009. Epub 2013 Mar 1. PMID: 23466472.
28: Casadei R, Piovesan A, Vitale L, Facchin F, Pelleri MC, Canaider S, Bianconi
E, Frabetti F, Strippoli P. Genome-scale analysis of human mRNA 5' coding
sequences based on expressed sequence tag (EST) database. Genomics. 2012
Aug;100(2):125-30. doi: 10.1016/j.ygeno.2012.05.012. Epub 2012 May 31. PMID:
22659028.
29: Lenzi L, Facchin F, Piva F, Giulietti M, Pelleri MC, Frabetti F, Vitale L,
Casadei R, Canaider S, Bortoluzzi S, Coppe A, Danieli GA, Principato G, Ferrari
S, Strippoli P. TRAM (Transcriptome Mapper): database-driven creation and
analysis of transcriptome maps from multiple sources. BMC Genomics. 2011 Feb
18;12:121. doi: 10.1186/1471-2164-12-121. PMID: 21333005; PMCID: PMC3052188.
30: Casadei R, Pelleri MC, Vitale L, Facchin F, Lenzi L, Canaider S, Strippoli
P, Frabetti F. Identification of housekeeping genes suitable for gene expression
analysis in the zebrafish. Gene Expr Patterns. 2011 Mar-Apr;11(3-4):271-6. doi:
10.1016/j.gep.2011.01.003. Epub 2011 Jan 31. PMID: 21281742.
31: Facchin F, Vitale L, Bianconi E, Piva F, Frabetti F, Strippoli P, Casadei R,
Pelleri MC, Piovesan A, Canaider S. Complexity of bidirectional transcription
and alternative splicing at human RCAN3 locus. PLoS One. 2011;6(9):e24508. doi:
10.1371/journal.pone.0024508. Epub 2011 Sep 22. PMID: 21961037; PMCID:
PMC3178534.
