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Complessità del genoma
Manuale
d'uso della FIAT 500
Apollo
Operations Handbook, Lunar Module, Subsystems Data (part of
the documentation)
Mappe del genoma
NCBI Genome
Data Viewer
UCSC Genome
Browser
Sanger-EBI Ensembl
GOLD,
Genomes OnLine Database
The Ethical, Legal and Social
Implications (ELSI) Research program
Banche dati di geni
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OMIM
- Search (contiene dati sui caratteri
umani che hanno base genetica e sui relativi geni)
Banche dati di RNA
non codificanti per proteine
miRBase
(miRNA Database)
RNAcentral:
The non-coding RNA sequence database
Genomic
tRNA database
Banca dati di pseudogeni
Pseudogene.org
Banche
dati di marcatori genomici
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.
Emmanuelle Charpentier e Jennifer A. Doudna, Chimica, 8
Dicembre 2020.
Emmanuelle
Charpentier:
The
development of a method for genome editing.
Jennifer A.
Doudna: The Chemistry of CRISPR: Editing the Code of Life.
Riferimenti bibliografici on line
1. STRUTTURA MOLECOLARE DEL DNA E INFORMAZIONE GENETICA
Situs viscerum inversus
https://omim.org/entry/270100
ENAM Gene
https://www.ncbi.nlm.nih.gov/gene/10117
Bainard JD, Gregory TR. Genome size evolution: patterns,
mechanisms, and methodological advances. Genome 56:vii-viii, 2013.
https://pubmed.ncbi.nlm.nih.gov/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.
PLoS Biology, 14:e10025332016, 2016.
https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002533
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.
https://pubmed.ncbi.nlm.nih.gov/13054692/
Struttura del DNA
http://biomodel.uah.es/en/model4/dna_it/index.htm
2.
STRUTTURA E FUNZIONE DEL GENE EUCARIOTICO
HBB Gene
https://www.ncbi.nlm.nih.gov/gene/3043
HBB mRNA NM_000518
https://www.ncbi.nlm.nih.gov/nuccore/NM_000518
HBB Protein
https://www.ncbi.nlm.nih.gov/protein/NP_000509
Approfondimento sulla Bioinformatica
http://apollo11.isto.unibo.it/Flight_Manual/it/Bioinfo.htm
Beadle GW, Tatum EL. Genetic Control of Biochemical
Reactions in Neurospora. Proc Natl Acad Sci USA
27:499-506, 1941.
https://pubmed.ncbi.nlm.nih.gov/16588492/
Gelbart WM. Databases in genomic research. Science
282:659-661, 1998.
https://pubmed.ncbi.nlm.nih.gov/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.
https://pubmed.ncbi.nlm.nih.gov/17567988/
Hershey AD. An upper limit to the protein content of the
germinal substance of bacteriophage T2. Virology
1:108-127, 1955.
https://pubmed.ncbi.nlm.nih.gov/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.
https://link.springer.com/article/10.1007/BF02426630
Kozak M. Initiation of translation in prokaryotes and
eukaryotes. Gene 234:187–208, 1999.
https://pubmed.ncbi.nlm.nih.gov/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.
https://pubmed.ncbi.nlm.nih.gov/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.
https://pubmed.ncbi.nlm.nih.gov/5325653/
Watson JD, Crick FH. Genetical implications of the
structure of deoxyribonucleic acid. Nature 171:964-967,
1953.
https://pubmed.ncbi.nlm.nih.gov/13063483/
3. GENOMA UMANO
Nature
Human
Genome Collection
ENCODE
http://genome.ucsc.edu/ENCODE/
NCBI Genome Data Viewer
https://www.ncbi.nlm.nih.gov/genome/gdv/
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.
https://pubmed.ncbi.nlm.nih.gov/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:
https://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. EREDITÀ 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
Gender
verification of female athletes - Elsas et al., Genet Med,
2:249-254, 2000
The
Humiliating Practice of Sex-Testing Female Athletes -
Padawer, New Yor Times, June 28, 2016
Traduzione italiana: Troppo
veloce - Internazionale, 22 Luglio 2016
The
unfinished race: 30 years of gender verification in sport -
Martínez-Patiño et al., The Lancet 388:541-543, 2016
Sex
as an important biological variable in biomedical research -
Lee, BMB Rep 51:167–173, 2018
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
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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
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criteria for recognition and some speculations on
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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
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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
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the phenotype. Hum Mol Genet 2016.
http://www.ncbi.nlm.nih.gov/pubmed/27106104
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complete atrioventricular canal with anterior common leaflet
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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,
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23. EREDITÀ MULTIFATTORIALE
Gardner H. The theory of multiple
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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
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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:
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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).
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.