Link per la Genetica e la Genomica Umana in generale

Banche dati dell'NCBI
Ricerca trasversale su molte diverse banche dati di interesse biomedico,
tra cui la banca dati bibliografica PubMed

NOTA BENE:
Risorse riservate all'Ateneo di Bologna: come accedere, a seconda del programma che usate per Internet

Complessità del genoma
Manuale d'uso della FIAT 500
Apollo Operations Handbook, Lunar Module, Subsystems Data (part of the documentation)

Mappe del genoma
NCBI Map Viewer (human)
UCSC Genome Browser
Sanger-EBI Ensembl
Progetto HapMap
GOLD, Genomes OnLine Database
The Ethical, Legal and Social Implications (ELSI) Research program

Banche dati di geni
Gene
RefSeq
Nucleotide / GenBank
OMIM - Search (contiene dati sui caratteri umani che hanno base genetica e sui relativi geni)

Banche dati di RNA non codificanti per proteine
                               
Noncoding RNA database  
miRBase (miRNA Database)  
Long noncoding RNA
Genomic tRNA database   

Banca dati di pseudogeni
Pseudogene.org

Banche dati di marcatori genomici
Sequence Tagged Site (STS) database
Expressed Sequence Tags (EST) database

Banca dati di sequenze ripetute
RepBase            

Software per il confronto di sequenze
BLAST

Banca dati sul DNA mitocondriale
MITOMAP

Progetto ENCODE
ENCODE Project
ENCODE Explorer

Premio Nobel  - Lezioni magistrali

Albert Szent-Györgyi, Fisiologia o Medicina, 11 Dicembre 1937.
Oxidation, Energy Transfer, and Vitamins.

Frederick Sanger, Chimica, 8 Dicembre 1980.
Determination of Nucleotide Sequences in DNA.

Barbara McClintock, Fisiologia o Medicina, 8 Dicembre 1983.
The Significance of Responses of the Genome to Challenge.

Kary B. Mullis, Chimica, 8 Dicembre 1993.
The Polymerase Chain Reaction.

Richard Axel, Fisiologia o Medicina, 8 Dicembre 2004.
Scents and Sensibility: A Molecular Logic of Olfactory Perception.

Andrew Fire e Craig Mello, Fisiologia o Medicina, 8 Dicembre 2006.
Andrew Fire: Gene Silencing by Double-Stranded RNA.
Craig Mello: RNAi and Development in C. Elegans.


Riferimenti bibliografici on line


1. STRUTTURA MOLECOLARE DEL DNA E INFORMAZIONE GENETICA


Situs viscerum inversus
http://omim.org/entry/270100

ENAM Gene
http://www.ncbi.nlm.nih.gov/gene/10117

Bainard JD, Gregory TR. Genome size evolution: patterns, mechanisms, and methodological advances. Genome 56:vii-viii, 2013.
http://www.ncbi.nlm.nih.gov/pubmed/24168634

Lejeune J. Testimony before the louisiana legislature. June 7, 1990.
http://publications.fondationlejeune.org/article.asp?filename=fjl424.xml

Sender R, Fuchs S, Milo R. Revised estimates for the number of human and bacteria cells in the body. bioRxiv 2016.
http://biorxiv.org/content/early/2016/01/06/036103

Shannon CE. A Mathematical Theory  of  Communication. The Bell System Technical Journal 27:379-423, 1948.
http://ieeexplore.ieee.org/stamp/stamp.jsp?tp=&arnumber=6773024

Watson JD, Crick FH. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171:737-738, 1953.
http://www.ncbi.nlm.nih.gov/pubmed/13054692

Struttura del DNA
http://www.umass.edu/molvis/tutorials/dna/


2. STRUTTURA E FUNZIONE DEL GENE EUCARIOTICO


HBB Gene
http://www.ncbi.nlm.nih.gov/gene/3043

HBB mRNA NM_000518
http://www.ncbi.nlm.nih.gov/nuccore/NM_000518

HBB Protein
http://www.ncbi.nlm.nih.gov/protein/NP_000509

Approfondimento sulla Bioinformatica
http://apollo11.isto.unibo.it/Flight_Manual/Bioinfo.htm

Beadle GW, Tatum EL. Genetic Control of Biochemical Reactions in Neurospora. Proc Natl Acad Sci USA 27:499-506, 1941.
http://www.ncbi.nlm.nih.gov/pubmed/16588492

Gelbart WM. Databases in genomic research. Science 282:659-661, 1998.
http://www.ncbi.nlm.nih.gov/pubmed/9784119

Gerstein MB, Bruce C, Rozowsky JS, Zheng D, Du J, Korbel JO, Emanuelsson O, Zhang ZD, Weissman S, Snyder M. What is a gene, post-ENCODE? History and updated definition. Genome Res 17:669-681, 2007.
http://www.ncbi.nlm.nih.gov/pubmed/17567988

Hershey AD. An upper limit to the protein content of the germinal substance of bacteriophage T2. Virology 1:108-127, 1955.
http://www.ncbi.nlm.nih.gov/pubmed/13267980

Johannsen, W. Elemente der exakten Erblichkeitslehre, Jena, 1909 citato da Nils Roll-Hansen. The crucial experiment of Wilhelm Johannsen. Biol Philos 4:303-329, 1989.
http://link.springer.com/article/10.1007%2FBF02426630

Kozak M. Initiation of translation in prokaryotes and eukaryotes. Gene 234:187–208, 1999.
http://www.ncbi.nlm.nih.gov/pubmed/10395892

Nirenberg M, Leder P, Bernfield M, Brimacombe R, Trupin J, Rottman F, O'Neal C. RNA codewords and protein synthesis, VII. On the general nature of the RNA code. Proc Natl Acad Sci USA 53:1161-1168, 1965.
http://www.ncbi.nlm.nih.gov/pubmed/5330357

Söll D, Ohtsuka E, Jones DS, Lohrmann R, Hayatsu H, Nishimura S, Khorana HG. Studies on polynucleotides, XLIX. Stimulation of the binding of aminoacyl-sRNA's to ribosomes by ribotrinucleotides and a survey of codon assignments for 20 amino acids. Proc Natl Acad Sci USA 54:1378-1385, 1965.
http://www.ncbi.nlm.nih.gov/pubmed/5325653

Watson JD, Crick FH. Genetical implications of the structure of deoxyribonucleic acid. Nature 171:964-967, 1953.
http://www.ncbi.nlm.nih.gov/pubmed/13063483


3. GENOMA UMANO


Nature Human Genome Collection

ENCODE
http://genome.ucsc.edu/ENCODE/

Map Viewer
http://www.ncbi.nlm.nih.gov/projects/mapview/map_search.cgi?taxid=9606

100.000 Genomes Project
http://www.genomicsengland.co.uk/

Andreu-Ballester JC, Colomer RE, Millán Scheiding M, Ballester F. Tonsillectomy and risk of acute appendicitis. Am J Gastroenterol 98:2806-2807, 2003.
http://www.ncbi.nlm.nih.gov/pubmed/14687841

Andreu-Ballester JC, Pérez-Griera J, Ballester F, Colomer-Rubio E, Ortiz-Tarín I, Peñarroja Otero C. Secretory immunoglobulin A (sIgA) deficiency in serum of patients with GALTectomy (appendectomy and tonsillectomy). Clin Immunol 123:289-297, 2007.
http://www.ncbi.nlm.nih.gov/pubmed/17449327

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 40:463-471, 2013.
http://www.ncbi.nlm.nih.gov/pubmed/23829164

Campillo-Balderas, Lazcano A, Becerra A. Viral genome size distribution does not correlate with the antiquity of the host lineages. Front Ecol Evol, 2015.
http://journal.frontiersin.org/article/10.3389/fevo.2015.00143/full

Cavelier L, Johannisson A, Gyllensten U. Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR. Exp Cell Res 259:79-85, 2000.
http://www.ncbi.nlm.nih.gov/pubmed/10942580

Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69-87, 2005.
http://www.ncbi.nlm.nih.gov/pubmed/16136131

Eddy SR. The C-value paradox, junk DNA and ENCODE. Curr Biol 22:R898-899, 2012.
http://www.ncbi.nlm.nih.gov/pubmed/23137679

Elliott TA, Gregory TR. What's in a genome? The C-value enigma and the evolution of eukaryotic genome content. Philos Trans R Soc Lond B Biol Sci 370:20140331, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/26323762

Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 7:85-97, 2006.
http://www.ncbi.nlm.nih.gov/pubmed/16418744

Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 391:806-811, 1998.
http://www.ncbi.nlm.nih.gov/pubmed/9486653

International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409:860-921, 2001.
http://www.nature.com/nature/journal/v409/n6822/full/409860a0.html

International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431:931-945, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/11237011

Land M, Hauser L, Jun SR, Nookaew I, Leuze MR, Ahn TH, Karpinets T, Lund O, Kora G, Wassenaar T, et al. Insights from 20 years of bacterial genome sequencing. Funct Integr Genomics 15:141-161, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/25722247

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, Macdonald JR et al. The Diploid Genome Sequence of an Individual Human. PLoS Biol 5:e254, 2007.
http://www.ncbi.nlm.nih.gov/pubmed/17803354

Mattick JS, Igor V. Makunin IV. Non-coding RNA. Hum Mol Genet 15:R17-R29, 2006.
http://www.ncbi.nlm.nih.gov/pubmed/16651366

Mohanta TK, Bae H. The diversity of fungal genome. Biol Proced Online 17:8, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/25866485

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 22:495-503.
http://www.ncbi.nlm.nih.gov/pubmed/26581719

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. doi: 10.1093/database/baw153

https://www.ncbi.nlm.nih.gov/pubmed/28025344

 

Sender R, Fuchs S, Milo R. Revised estimates for the number of human and bacteria cells in the body. PLoS Biol 14:e1002533, 2016.

https://www.ncbi.nlm.nih.gov/pubmed/27541692


Strippoli P, Canaider S, Noferini F, D'Addabbo P, Vitale L, Facchin F, Lenzi L, Casadei R, Carinci P, Zannotti M, Frabetti F. Uncertainty principle of genetic information in a living cell. Theor Biol Med Model 2:40, 2005.
http://www.ncbi.nlm.nih.gov/pubmed/16197549

Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, et al. An integrated map of structural variation in 2,504 human genomes. Nature 526:75–81, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/26432246


Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, et al. The sequence of the human genome. Science 291:1304-1351, 2001.
http://www.ncbi.nlm.nih.gov/pubmed/11181995


4. FAMIGLIE GENICHE

Buck L, Axel R. A novel multigene family may encode odorant receptors: a molecular basis for odor recognition. Cell 65:175-187, 1991.
http://www.ncbi.nlm.nih.gov/pubmed/1840504

Gerstein M, Zheng D. The Real Life of Pseudogenes. Sci Am 295:48-55, 2006.
http://papers.gersteinlab.org/e-print/sciam2/
[Tr. it.: La vera vita degli pseudogeni. Le Scienze 458:66-73, Ottobre 2006, Milano].

Hanchate NK, Kondoh K, Lu Z, Kuang D, Ye X, Qiu X, Pachter L, Trapnell C, Buck LB. Single-cell transcriptomics reveals receptor transformations during olfactory neurogenesis. Science 350:1251-125, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/26541607
[Commento in:
http://www.lescienze.it/news/2015/11/09/news/neuroni_olfattivi_sviluppo_espressione_recettori-2838412/]

Nishikimi M, Fukuyama R, Minoshima S, Shimizu N, Yagi K. Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man. J Biol Chem 269:13685-13688, 1994.
http://www.ncbi.nlm.nih.gov/pubmed/8175804


5-6. FAMIGLIE DI SEQUENZE RIPETUTE DI DNA NON GENICO

Singer T, McConnell MJ, Marchetto MC, Coufal NG, Gage FH. LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes? Trends Neurosci 33:345-354, 2010.
http://www.ncbi.nlm.nih.gov/pubmed/20471112
 

7. ANALISI DEL CARIOTIPO

Cariotipo
http://www.accessexcellence.org/AB/GG/human.html

Gruppi di cromosomi umani
http://homepages.uel.ac.uk/V.K.Sieber/human.htm

Bande
http://www.emc.maricopa.edu/faculty/farabee/BIOBK/Human_46,XY.gif
http://www.tokyo-med.ac.jp/genet/cki-e.htm

Ideogrammi dei cromosomi umani
http://www.pathology.washington.edu/research/cytopages/idiograms/human/

Genome Decoration Page
http://www.ncbi.nlm.nih.gov/genome/tools/gdp

Mappa fisica dei cromosomi umani
http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?chr=hum_chr.inf&query

Link per la Citogenica
http://www.kumc.edu/gec/prof/cytogene.html

Caspersson T, Zech L, Johansson C, Modest EJ. Identification of human chromosomes by DNA binding fluorescent agents. Chromosoma 30:215-227, 1970.
http://www.ncbi.nlm.nih.gov/pubmed/4193398

Caspersson T, Hultén M, Lindsten J, Therkelsen AJ, Zech L. Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 67:213-220, 1971.
http://www.ncbi.nlm.nih.gov/pubmed/4142007

Martin CL, Warburton D. Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence. Annu Rev Genomics Hum Genet 16:309-326, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/26077817

Seabright M. A rapid banding technique for human chromosomes. Lancet 2:971-972, 1971.
http://www.ncbi.nlm.nih.gov/pubmed/4107917

Smeets DF. Historical prospective of human cytogenetics: from microscope to microarray. Clin Biochem 37:439-446, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15183291

Sumner AT, Evans HJ, Buckland RA. New technique for distinguishing between human chromosomes. Nat New Biol 232:31-32, 1971.
http://www.ncbi.nlm.nih.gov/pubmed/4105244

Patterson D, Costa AC. Down syndrome and genetics - a case of linked histories. Nat Rev Genet 6:137-147, 2005.
http://www.ncbi.nlm.nih.gov/pubmed/15640809


8. SIGNIFICATO DEGLI ESPERIMENTI DI MENDEL

Storico articolo originale di Mendel disponibile nella traduzione inglese:
http://www.esp.org/foundations/genetics/classical/gm-65.pdf


9. EREDITA' AUTOSOMICA DOMINANTE

OMIM - Banca dati di riferimento per la ricerca delle malattie umane legate a uno o più geni
http://www.omim.org/

Nanismo acondroplasico
http://www.omim.org/entry/100800

FGFR3 Gene
http://www.ncbi.nlm.nih.gov/gene/2261

Prognatismo
http://www.omim.org/entry/176700

Amanvermez R, Tosun M. An Update on Ovarian Aging and Ovarian Reserve Tests. Int J Fertil Steril 9:411-415, 2016.
http://www.ncbi.nlm.nih.gov/pubmed/26985328

Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nat Genet 6:318-321, 1994.
http://www.ncbi.nlm.nih.gov/pubmed/8012398

Richette P, Bardin T, Stheneur C. Achondroplasia: from genotype to phenotype. Joint Bone Spine 75:125-130, 2008.
http://www.ncbi.nlm.nih.gov/pubmed/17950653

Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Hum Mol Genet 22:4117-4126, 2013.
http://www.ncbi.nlm.nih.gov/pubmed/23740942


10. EREDITA' AUTOSOMICA RECESSIVA

Albinismo
http://www.omim.org/entry/203100

TYR Gene
http://www.ncbi.nlm.nih.gov/gene/7299

Talassemia beta
http://www.omim.org/entry/613985

Fibrosi cistica
http://www.omim.org/entry/219700

Fenilchetonuria
http://www.omim.org/entry/261600


11. INTERAZIONE TRA ALLELI. EREDITÀ DEL GRUPPO SANGUIGNO ABO

FGFR3 e acondroplasia in OMIM
http://www.omim.org/entry/134934
http://www.omim.org/entry/100800

Gene per la ß-globina
http://www.omim.org/entry/141900

Gene H o FUT1
http://www.omim.org/entry/211100

Fenotipo Bombay

http://www.omim.org/entry/616754

La "Nobel Lecture" "On individual differences in human blood" di Karl Landsteiner,
premio Nobel per la Medicina nel 1930 per la scoperta dei gruppi sanguigni:
http://nobelprize.org/nobel_prizes/medicine/laureates/1930/landsteiner-lecture.html

Olsson ML, Hill CA, de la Vega H, Liu QP, Stroud MR, Valdinocci J, Moon S, Clausen H, Kruskall MS. Universal red blood cells--enzymatic conversion of blood group A and B antigens. Transfus Clin Biol 11:33-39, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/14980547


12. EREDITÁ DEL GRUPPO SANGUIGNO RH


RHD Gene
http://www.ncbi.nlm.nih.gov/gene/6007


13. DETERMINAZIONE GENETICA DEL SESSO


Emofilia A e B
http://www.omim.org/entry/306700
http://www.omim.org/entry/306900

TDF in OMIM
http://www.omim.org/entry/480000

SRY Gene
http://www.ncbi.nlm.nih.gov/gene/6736

SOX9 Gene
http://www.omim.org/entry/608160

Gene TTY1 in OMIM
http://www.omim.org/entry/400012


14. EREDITÀ LEGATA AL SESSO

SRY Gene
http://www.ncbi.nlm.nih.gov/gene/6736

EDA Gene
http://www.ncbi.nlm.nih.gov/gene/1896

XIST Gene
http://www.ncbi.nlm.nih.gov/gene/7503

TSIX Gene
http://www.ncbi.nlm.nih.gov/gene/9383

Gene MECP2 in OMIM
http://omim.org/entry/300005

Emofilia B
http://omim.org/entry/306900
F9 Gene
http://www.ncbi.nlm.nih.gov/gene/2158

Emofilia A
http://omim.org/entry/306700
F8 Gene
http://www.ncbi.nlm.nih.gov/gene/2157

OPN1LW Gene
http://www.ncbi.nlm.nih.gov/gene/5956
OPN1MW Gene
http://www.ncbi.nlm.nih.gov/gene/2652
OPN1MW2 Gene
http://www.ncbi.nlm.nih.gov/gene/728458
OPN1SW Gene
http://www.ncbi.nlm.nih.gov/gene/611

DMD Gene
http://www.ncbi.nlm.nih.gov/gene/1756

Adrenoleucodistrofia e Gene ABCD1 in OMIM
http://omim.org/entry/300100
http://www.ncbi.nlm.nih.gov/gene/215

Disteche CM, Berletch JB. X-chromosome inactivation and escape. J Genet 94:591-599, 2015.
http://www.ncbi.nlm.nih.gov/pubmed/26690513

Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373, 1961.
http://www.ncbi.nlm.nih.gov/pubmed/13764598

Migeon BR, Lee CH, Chowdhury AK, Carpenter H. Species differences in TSIX/Tsix reveal the roles of these genes in X-chromosome inactivation. Am J Hum Genet 71:286-293, 2002.
http://www.ncbi.nlm.nih.gov/pubmed/12023758/

Morgan TH. Sex limited inheritance in Drosophila. Science 32:120-122, 1910.
http://www.ncbi.nlm.nih.gov/pubmed/17759620

Rogaev EI, Grigorenko AP, Faskhutdinova G, Kittler EL, Moliaka YK. Genotype analysis identifies the cause of the "royal disease". Science 326:817, 2009.
http://www.ncbi.nlm.nih.gov/pubmed/19815722

Senior K. Lorenzo's oil may help to prevent ALD symptoms. Lancet Neurol 1:468, 2002.
http://www.ncbi.nlm.nih.gov/pubmed/12849323

Villanova M, Brancalion B, Mehta AD. Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support. Am J Phys Med Rehabil 93:595-599, 2014.
http://www.ncbi.nlm.nih.gov/pubmed/24743468


15. ASSOCIAZIONE E SCAMBIO

Gene RAD51 in OMIM
http://www.omim.org/entry/603070

Morgan TH. The Contribution of Genetics to Physiology and Medicine. Nobel Lecture, June 4, 1934.
https://www.nobelprize.org/nobel_prizes/medicine/laureates/1933/morgan-lecture.html
[Bellissimo discorso di accettazione del Premio Nobel per la Fisiologia o Medicina 1933].

Sturtevant AH. The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association. J Exp Biol 14:43-59, 1913.
http://www.esp.org/foundations/genetics/classical/holdings/Genetics/Genetics-1936-21-5-554.pdf
[La storica prima mappa genetica ottenuta da Alfred Henry Sturtevant, allevo di Morgan, osservando i fenotipi risultanti dagli incroci dei moscerini della frutta].

West SC. Molecular views of recombination proteins and their control. Nat Rev Mol Cell Biol 4:435-445, 2003.
http://www.ncbi.nlm.nih.gov/pubmed/12778123


16. EREDITÀ MITOCONDRIALE

Sequenza dell'mtDNA
http://www.ncbi.nlm.nih.gov/nuccore/251831106

MITOMAP
http://www.mitomap.org/

mtDNA Europeo
http://www.duffus.com/o'keeffe_DNA_sequence.htm

Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG. Sequence and organization of the human mitochondrial genome. Nature 290:457-465, 1981.
http://www.ncbi.nlm.nih.gov/pubmed/7219534

Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719, 1988.
http://www.ncbi.nlm.nih.gov/pubmed/2830540

Kraytsberg Y, Schwartz M, Brown TA, Ebralidse K, Kunz WS, Clayton DA, Vissing J, Khrapko K. Recombination of human mitochondrial DNA. Science 304:981, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15143273

Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 347:576-580, 2002.
http://www.ncbi.nlm.nih.gov/pubmed/12192017

Stone AC, Starrs JE, Stoneking M. Mitochondrial DNA analysis of the presumptive remains of Jesse James. J Forensic Sci 46:173-176, 2001.
http://www.ncbi.nlm.nih.gov/pubmed/11210907


17. EPIGENETICA


Sindrome di Rett
http://www.omim.org/entry/312750

Variant Creutzfeldt-Jakob Disease (vCJD)
http://www.who.int/mediacentre/factsheets/fs180/en/index.html
http://www.cjd.ed.ac.uk/data.html

Ishida M, Moore GE. The role of imprinted genes in humans. Mol Aspects Med 34:826-840, 2013.
http://www.ncbi.nlm.nih.gov/pubmed/22771538

Tierling S, Souren NY, Reither S, Zang KD, Meng-Hentschel J, Leitner D, Oehl-Jaschkowitz B, Walter J. DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome. Clin Genet 79:546-553, 2011.
http://www.ncbi.nlm.nih.gov/pubmed/20618351

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockey TL, Best L, Chitayat D, Onley A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11:1317-1325, 2002.
http://www.ncbi.nlm.nih.gov/pubmed/12019213


18. MUTAZIONI

Corea di Huntington
http://omim.org/entry/604802

19. EFFETTI DELLE MUTAZIONI GENICHE SUI PRODOTTI DEL GENE

Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315:525-528, 2007.
http://www.ncbi.nlm.nih.gov/pubmed/17185560

Nackley AG, Shabalina SA, Tchivileva IE, Satterfield K, Korchynskyi O, Makarov SS, Maixner W, Diatchenko L. Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science 314:1930-1933, 2006.
http://www.ncbi.nlm.nih.gov/pubmed/17185601

Schweingruber C, Rufener SC, Zünd D, Yamashita A, Mühlemann O. Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochim Biophys Acta 1829:612-623, 2013.
http://www.ncbi.nlm.nih.gov/pubmed/23435113

20. MUTAZIONI CROMOSOMICHE DI STRUTTURA. ANOMALIE INTRACROMOSOMICHE

Sindrome di Williams
http://omim.org/entry/194050

Martens MA, Reutens DC, Wilson SJ. Auditory cortical volumes and musical ability in Williams syndrome. Neuropsychologia 48:2602-2609, 2010.
http://www.ncbi.nlm.nih.gov/pubmed/20457168

http://www.tokyo-med.ac.jp/genet/index-e.htm


21. ANOMALIE INTERCROMOSOMICHE: TRASLOCAZIONI


22. MUTAZIONI GENOMICHE

Cariotipo con trisomia 21
http://www.tokyo-med.ac.jp/genet/kry/tri215k.jpg

Età materna
http://www.ds-health.com/risk.htm

Lejeune J. Complete collection of publications.
http://publications.fondationlejeune.org/CompleteListe.asp

Progetto Genoma 21
http://apollo11.isto.unibo.it/

Allen G, Benda CE, Böök JA, Carter CO, Ford CE, Chu EH, Hanhart E, Jervis G, Langdon-Down W, Lejeune J, Nishimura H, Oster J, Penrose LS, Polani PE, Potter EL, Stern C, Turpin R, Warkany J, Yannet H. Mongolism. Am J Hum Genet 13:426, 1961.
http://www.ncbi.nlm.nih.gov/pubmed/17948460

de la Torre R, de Sola S, Hernandez G, Farré M, Pujol J, Rodriguez J, Espadaler JM, Langohr K, Cuenca-Royo A, Principe A, Xicota L, Janel N, Catuara-Solarz S, Sanchez-Benavides G, Bléhaut H, Dueñas-Espín I, Del Hoyo L, Benejam B, Blanco-Hinojo L, Videla S, Fitó M, Delabar JM, Dierssen M; TESDAD study group. Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial. Lancet Neurol 2016.
http://www.ncbi.nlm.nih.gov/pubmed/27302362

Devlin L, Morrison PJ. Accuracy of the clinical diagnosis of Down syndrome. Ulster Med J 73:4-12, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15244118

Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard 33:54-56, 1995
http://www.ncbi.nlm.nih.gov/pubmed/7707939

Guidi S, Stagni F, Bianchi P, Ciani E, Giacomini A, De Franceschi M, Moldrich R, Kurniawan N, Mardon K, Giuliani A, Calzà L, Bartesaghi R. Prenatal pharmacotherapy rescues brain development in a Down's syndrome mouse model. Brain 137(Pt 2):380-401, 2014.
http://www.ncbi.nlm.nih.gov/pubmed/24334313

Hall B. Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on
the pathogenic activity of the chromosomal abnormality. Clin Pediatr (Phila) 5:4-12, 1966.
http://www.ncbi.nlm.nih.gov/pubmed/4221291

Hook EB, JAMA 249:2034-2038, 1983 citato in: http://www.ds-health.com/risk.htm

Jackson JF, North ER 3rd., Thomas JG. Clinical diagnosis of Down’s syndrome. Clin Genet 9:483-487, 1976.
http://www.ncbi.nlm.nih.gov/pubmed/131663

Lejeune J., Gauthier M., Turpin R. Human chromosomes in tissue cultures. C R Hebd Seances Acad Sci 248:602–603, 1959.
http://www.ncbi.nlm.nih.gov/pubmed/13629913

Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature 508:345-350, 2014.
http://www.ncbi.nlm.nih.gov/pubmed/24740065

Niebuhr E. Down’s syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik 21:99-101, 1974.
http://www.ncbi.nlm.nih.gov/pubmed/4276065

O'Donnell CP, Pertile MD, Sheffield LJ, Sampson A. Monozygotic twins with discordant karyotypes: a case report. J Pediatr 145:406-408, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15343200

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.
http://www.ncbi.nlm.nih.gov/pubmed/27106104

Rastelli GC, Ongley PA, McGoon DC. Surgical repair of complete atrioventricular canal with anterior common leaflet undivided and unattached to ventricular septum. Mayo Clin Proc 44:335-341, 1969.
http://www.ncbi.nlm.nih.gov/pubmed/5798248

Strippoli P, Pelleri MC, Caracausi M, Vitale L, Piovesan A, Locatelli C, Mimmi MC, Berardi AC, Ricotta D, Radeghieri A, Barisani D, Basik M, Monaco MC, Ghezzo A, Seri M, Cocchi G. An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune. Sci Postprint 1, e00010, 2013.
http://www.spp-j.com/spp/1-1/spp.2013.12R0005/

Strippoli P. Trisomy 21: research for a cure and rediscovery of the thought of Jérôme Lejeune. J Med Pers 12:104-110, 2014.
http://link.springer.com/article/10.1007/s12682-014-0181-6
[Article based on the talk at MedConference, Florham Park, NJ, 2013]
http://www.medconference.org/storage/transcripts/2013-transcript-strippoli.pdf

23. EREDITÀ MULTIFATTORIALE

Gardner H. The theory of multiple intelligences. Ann Dyslexia 37:19-35, 1987.
http://www.ncbi.nlm.nih.gov/pubmed/24234985

Marmor M, Sheppard HW, Donnell D, Bozeman S, Celum C, Buchbinder S, Koblin B, Seage GR 3rd; HIV Network for Prevention Trials Vaccine Preparedness Protocol Team. Homozygous and heterozygous CCR5-Delta32 genotypes are associated with resistance to HIV infection. J Acquir Immune Defic Syndr 27:472-481, 2001.
http://www.ncbi.nlm.nih.gov/pubmed/11511825

McGuffin P, Huckle P. Simulation of Mendelism revisited: the recessive gene for attending medical school. Am J Hum Genet 46:994-999, 1990.
http://www.ncbi.nlm.nih.gov/pubmed/2339697

O'Donnell CP, Pertile MD, Sheffield LJ, Sampson A. Monozygotic twins with discordant karyotypes: a case report. J Pediatr 145:406-408, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15343200

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11:1317-1325, 2002.
http://www.ncbi.nlm.nih.gov/pubmed/12019213

24. CARATTERI MULTIFATTORIALI

MC1R Gene
http://www.ncbi.nlm.nih.gov/gene/4157

Cherkas LF, Oelsner EC, Mak YT, Valdes A, Spector TD. Genetic influences on female infidelity and number of sexual partners in humans: a linkage and association study of the role of the vasopressin receptor gene (AVPR1A). Twin Res 7:649-658, 2004.
http://www.ncbi.nlm.nih.gov/pubmed/15607016

25. GENETICA DI POPOLAZIONE


26. FATTORI CHE MODIFICANO L'EQUILIBRIO DI HARDY-WEINBERG


Un caso interessante è quello delle poche centinaia di abitanti dell'isola di Tristan da Cunha (http://tinyurl.com/zl94krx), discendenti da un piccolissimo gruppo di fondatori (http://www.tristandc.com/historyhome.php).


Metodi di sequenziamento automatico: aggiornamento 2016

Recentemente sono aumentate le pubblicazioni di sequenze di DNA ottenute su larga scala con sequenziatori automatici di nuova generazione che non utilizzano il tradizionale metodo di Sanger.
L'efficienza di questi strumenti è molto più elevata di quelli tradizionali e, seppure al momento la accuratezza può essere inferiore, si prospetta ora più concretamente un accesso al sequenziamento del genoma individuale come strumento di indagine.
Questa tecnologia potrebbe presto fornire una enorme quantità di dati sui genomi di singoli individui, in un contesto di conoscenze tuttavia ancora insufficienti a interpretarle.
Si consultino, ad esempio, i seguenti siti:

Personal Genome Project
1000 Genome
The 454 System
The ABI SOLiD System

Highfield R. Ripped genes. Daily Telegraph Magazine, 27 Maggio 2006.



Last updated June 02, 2017

DNA