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_BA_xrcu_87v0y4s0tQo.0yG20yJy.MkG57hCs8g.04_MWtZ_XlIoA_xrcu_95xG-R6-2k6gc8o6xUk_SG-e0-SJVD%265%3d%26sN%3d7TBZD" style="color:rgb(17,85,204)" target="_blank"><img src="http://www.lescienze.it/static/images/newsletter/logo-lescienze.jpg" width="370" height="77" alt="logo le scienze" class="m_-1877201679022006837gmail-CToWUd"></a></td></tr><tr><td width="202" align="right" valign="bottom" style="font-family:arial,sans-serif;margin:0px"><span style="font-size:11px;line-height:7px;margin:0px;padding:0px">Newsletter del 27 aprile 2018</span></td></tr><tr><td height="12" colspan="2" align="center" valign="middle" style="font-family:arial,sans-serif;margin:0px"><img src="http://www.lescienze.it/static/images/newsletter/line-big.jpg" width="580" height="8" alt="linea grande" class="m_-1877201679022006837gmail-CToWUd"></td></tr></tbody></table><br><table width="580"><tbody><tr><td style="font-family:arial,sans-serif;margin:0px"><h1 style="color:rgb(0,0,0);font-family:Times,"Times New Roman",serif;font-size:20px;font-weight:bold;margin:0px;padding:0px"><a href="http://nl.kataweb.it/e/t?q=0%3d6ZSZ6%26G%3dNY%26p%3dVPdBb%26B%3db7WNX5%26P%3d5QvK_ExUu_P8_tvpw_4A_ExUu_OCyRJ.IgNzFgIMB.kO_ExUu_OCp0JP_tvpw_4AOg3c_ExUu_OCBY_ExUu_OC4e_ExUu_OCp0JP_tvpw_4ABRv_J3_8hM60c_J0FpD1F_gNGFpU6Lp0_0Bi638wIx-ZAYVY6d_ExUu_OC_tvpw_5AEBh_MnzR_X1Kn8c6x-q2-zeD2K20_Od-BY-Og3c%261%3d%26Fu%3dVPY7c" style="color:rgb(0,0,0);text-decoration:none;margin:0px;padding:0px" target="_blank">L'Out of Africa e la riduzione delle dimensioni dei mammiferi terrestri</a></h1><p style="font-size:14px;font-family:Arial,Helvetica,sans-serif;margin:0px;padding:0px">La diaspora di<span> </span><em>Homo sapiens</em><span> </span>fuori dal continente africano a partire da 125.000 anni fa fu accompagnata da un drastico calo delle dimensioni dei mammiferi terrestri, particolarmente evidente da quando furono disponibili armi a lungo raggio. Lo dimostra un nuovo studio, secondo il quale il fenomeno sarebbe ancora in corso<a href="http://nl.kataweb.it/e/t?q=0%3dNcLZN%26J%3dGY%268%3dYIdTe%265%3dbOZGXM%26S%3dxQDN_8xmx_I8_Byiw_LD_8xmx_HCGUC.IyQsFyLFB.3R_8xmx_HC8CCP_Byiw_LDHgKf_8xmx_HCTb_8xmx_HCLh_8xmx_HC8CCP_Byiw_LD5RD_Mv_8zPy0u_M3F8GtF_yQ0F8XyL8C_3B19v8ELq-ZSbOYNg_8xmx_HC_Byiw_MD8Bz_Pgzj_atK68u9q-tu-zwGuKJC_Hd-Tb-HgKf%26t%3d%26FC%3dYIYOf" style="color:rgb(221,79,79);text-decoration:none" target="_blank">leggi l'articolo »</a></p></td></tr><tr><td height="40" valign="middle" align="center" style="font-family:arial,sans-serif;margin:0px"><img src="http://www.lescienze.it/static/images/newsletter/line.jpg" width="580" height="1" alt="linea" class="m_-1877201679022006837gmail-CToWUd"></td></tr></tbody></table><table width="580"><tbody><tr><td style="font-family:arial,sans-serif;margin:0px"><h1 style="color:rgb(0,0,0);font-family:Times,"Times New Roman",serif;font-size:20px;font-weight:bold;margin:0px;padding:0px"><a href="http://nl.kataweb.it/e/t?q=7%3dKVEWK%26C%3d0V%265%3dRBaQX%26x%3dYLS0UJ%26L%3dqNAG_1ujq_B5_9rbt_I7_1ujq_A0DN6.FvJlCvE99.zK_1ujq_A0566M_9rbt_I7AdHY_1ujq_A0QU_1ujq_A0Ia_1ujq_A0566M_9rbt_I7mC46wMzFwC_40uTr_JnFvQrI56_w5AL1536_jJ56j-WPUHcMa_1ujq_A0_9rbt_J719w_IZwg_TmH3-5r2jmn-wt0nHG6_Aa-QU-AdHY%26m%3d%26C0%3dRBVLY" style="color:rgb(0,0,0);text-decoration:none;margin:0px;padding:0px" target="_blank">La selezione naturale moderna che aiuta i nomadi del mare</a></h1><p style="font-size:14px;font-family:Arial,Helvetica,sans-serif;margin:0px;padding:0px">Nella popolazione indonesiana dei Bajau, che vivono da mille anni pescando in apnea, le dimensioni medie della milza sono maggiori del 50 per cento rispetto alla vicina popolazione dei Saluan, che non vive di pesca. La differenza non è l'esito di un semplice adattamento dell'organismo, ma è controllata dai geni: si tratta di uno dei rari esempi di selezione naturale all'opera negli esseri umani moderni<a href="http://nl.kataweb.it/e/t?q=A%3dDVGaD%26C%3dBZ%26x%3dRDeJX%26z%3dcESBYC%26L%3dsR4G_3ycq_D9_2rdx_B7_3ycq_CD7N8.JoJnGoEAC.sK_3ycq_CDx68Q_2rdx_B7ChAY_3ycq_CDJU_3ycq_CDBa_3ycq_CDx68Q_2rdx_B7oGw6yQsFyG_w0wXk_JpJoQtMx6_y94L39v6_lNx6l-aIUJgFa_3ycq_CD_2rdx_C73Cp_Ib1Z_ToLv-9k2lmp-1m0pL06_Ce-JU-ChAY%26o%3d%26G3%3dRDZEY" style="color:rgb(221,79,79);text-decoration:none" target="_blank">leggi l'articolo »</a></p></td></tr><tr><td height="40" valign="middle" align="center" style="font-family:arial,sans-serif;margin:0px"><img src="http://www.lescienze.it/static/images/newsletter/line.jpg" width="580" height="1" alt="linea" class="m_-1877201679022006837gmail-CToWUd"></td></tr></tbody></table><table width="580"><tbody><tr><td style="font-family:arial,sans-serif;margin:0px"><h1 style="color:rgb(0,0,0);font-family:Times,"Times New Roman",serif;font-size:20px;font-weight:bold;margin:0px;padding:0px"><a href="http://nl.kataweb.it/e/t?q=7%3d5bDW5%26I%3d9V%26o%3dXAaAd%26w%3dY6Y9U4%26R%3dpNuM_zuTw_A5_sxat_3C_zuTw_00xT5.FfPkCfK89.jQ_zuTw_00oB5M_sxat_3C0d2e_zuTw_00Aa_zuTw_003g_zuTw_00oB5M_sxat_3CiOuF1Gp_SiLj8vNj_OmAjLvC_oLv_7pAq0j0iHuF_lHb-ZGX8bEY_sxat_3C_zuTw_A0sBn_LRzX_We5b8iKt-pf-zkCfK89_3d-HX-3g9b%26e%3d%26F1%3dU4YCb" style="color:rgb(0,0,0);text-decoration:none;margin:0px;padding:0px" target="_blank">L'influenza sull'autismo del DNA esterno ai geni</a></h1><p style="font-size:14px;font-family:Arial,Helvetica,sans-serif;margin:0px;padding:0px">Un'accurata analisi genetica su 2600 famiglie con almeno un membro affetto da un disturbo dello spettro autistico ha mostrato che nello sviluppo della patologia possono essere implicate varianti genetiche ereditarie che si trovano in regioni non codificanti del genoma, vale a dire esterne ai geni<a href="http://nl.kataweb.it/e/t?q=0%3dCV6ZC%26C%3d1Y%26w%3dR3dIX%26o%3dbDS1XB%26L%3dhQ3G_rxbq_38_1rSw_A7_rxbq_2C6Nw.InJcFnEzB.rK_rxbq_2Cw6wP_1rSw_A72g0Y_rxbq_2CIU_rxbq_2CAa_rxbq_2Cw6wP_1rSw_A7aR30sJx_MaOr2nQr_IeDrFnF_wFn_0x5iCr4aK30_dKj-T9aFV7b_1rSw_A7_rxbq_3C16f_OZtP_Zm8j2aEl-sn-tcFnEzB_AX-0a-Aa1e%26m%3d%260s%3dXBS5e" style="color:rgb(221,79,79);text-decoration:none" target="_blank">leggi l'articolo »</a></p></td></tr><tr><td height="40" valign="middle" align="center" style="font-family:arial,sans-serif;margin:0px"><img src="http://www.lescienze.it/static/images/newsletter/line.jpg" width="580" height="1" alt="linea" class="m_-1877201679022006837gmail-CToWUd"></td></tr></tbody></table>

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ello%20sviluppo" style="border:0px;font-weight:bold;font-style:normal;font-size:16px;font-family:Arial,Helvetica,sans-serif;vertical-align:baseline;margin:0px;padding:6px 0px 4px;text-decoration:none;color:rgb(17,17,17);display:block;font-variant:normal;font-stretch:normal;line-height:normal">biologia dello sviluppo</a><span class="gmail-Topic" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px;padding:0px"><span class="gmail-Topic" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px;padding:0px"></span></span></li><li class="gmail-link" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px 0px 0px 13px;padding:0px 0px 0px 20px;float:left;min-height:30px;height:30px;background:url("../images/ico-sprite.png") -365px -199px no-repeat scroll rgb(239,239,239)"><a href="http://www.lescienze.it/argomento/genetica" style="border:0px;font-weight:bold;font-style:normal;font-size:16px;font-family:Arial,Helvetica,sans-serif;vertical-align:baseline;margin:0px;padding:6px 0px 4px;text-decoration:none;color:rgb(17,17,17);display:block;font-variant:normal;font-stretch:normal;line-height:normal">genetica</a></li><li class="gmail-all" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px 10px 0px 13px;padding:0px 0px 0px 20px;float:right;min-height:30px;height:30px;background:url("../images/ico-sprite.png") -365px -239px no-repeat scroll rgb(239,239,239)"><a href="http://www.lescienze.it/news/2018/04/20/news/autismo_varianti_regioni_non_codificanti_dna-3947575/?ref=nl-Le-Scienze_27-04-2018#page-footer" style="border:0px;font-weight:bold;font-style:normal;font-size:16px;font-family:Arial,Helvetica,sans-serif;vertical-align:baseline;margin:0px;padding:6px 0px 4px;text-decoration:none;color:rgb(17,17,17);display:block;font-variant:normal;font-stretch:normal;line-height:20px">tutti gli argomenti</a></li></ul><div class="gmail-adv gmail-adv-strip" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:10px 0px 0px;padding:0px;clear:both;float:left"></div></header><div id="gmail-page" style="border:0px;font-weight:400;font-style:normal;font-size:14px;font-family:Arial,Helvetica,sans-serif;vertical-align:baseline;margin:0px;padding:0px;float:left;width:670px;color:rgb(0,0,0);font-variant-ligatures:normal;font-variant-caps:normal;letter-spacing:normal;text-align:left;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;text-decoration-style:initial;text-decoration-color:initial"><article class="gmail-main-article" style="display:block"><header style="display:block"><div class="gmail-datapubb" style="border:0px;font-weight:inherit;font-style:inherit;font-size:12px;font-family:inherit;vertical-align:baseline;margin:0px;padding:0px;color:rgb(102,102,102)">20 aprile 2018</div><h1 style="border:0px;font-weight:inherit;font-style:inherit;font-size:30px;font-family:OptimaBold,Arial,sans-serif;vertical-align:baseline;margin:0px 0px 10px;padding:0px;line-height:32px;color:rgb(17,17,17)">L'influenza sull'autismo del DNA esterno ai geni</h1></header><aside class="gmail-colsx" style="display:block;float:left;width:190px;clear:both"><figure style="display:block;float:left;margin:0px 10px 20px 0px"><img src="http://www.lescienze.it/images/2018/04/19/130103682-9ea42c46-8e33-4e4b-b209-9b0dee10adaf.jpg" alt="L'influenza sull'autismo del DNA esterno ai geni" title="L'influenza sull'autismo del DNA esterno ai geni" width="190" style="border: 0px; font-weight: inherit; font-style: inherit; font-size: 14px; font-family: inherit; vertical-align: baseline; margin: 0px; padding: 0px;"><figcaption style="display:block;font-size:11px;line-height:13px;color:rgb(68,68,68)">© Science Photo Library RF / AGF</figcaption></figure><section class="gmail-condividi" style="display:block;width:190px;margin-bottom:20px;float:left"><div class="gmail-utility gmail-noborder" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px;padding:0px;height:29px"><ul class="gmail-utility-tools" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:1px 0px 2px;padding:0px;float:left;list-style:none"><li class="gmail-tools-email" style="border:0px;font-weight:inherit;font-style:inherit;font-size:11px;font-family:inherit;vertical-align:baseline;margin:0px 11px 0px 0px;padding:0px;float:left"><a href="http://www.lescienze.it/news/2018/04/20/news/autismo_varianti_regioni_non_codificanti_dna-3947575/?ref=nl-Le-Scienze_27-04-2018" class="gmail-send" style="border:0px;font-weight:inherit;font-style:inherit;font-size:11px;font-family:Arial,Helvetica,sans-serif;vertical-align: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0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:0px;padding:0px">Lo sviluppo di disturbi dello spettro autistico è legato anche a varianti genetiche ereditarie che si trovano in regioni non codificanti del genoma. A mostrarlo è un gruppo di ricercatori dell'Università della California a San Diego e del Rady Children's Hospital, sempre a San Diego, che firmano<span> </span><a href="http://science.sciencemag.org/cgi/doi/10.1126/science.aan2261" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:Arial,Helvetica,sans-serif;vertical-align:baseline;margin:0px;padding:0px;text-decoration:none;color:rgb(204,0,0)">un articolo su "Science"</a>.<br><br>Ricerche precedenti hanno dimostrato che le mutazioni nei geni, che codificano per proteine, hanno un ruolo nello sviluppo dei disturbi dello spettro autistico. Tuttavia, queste mutazioni non spiegano tutti i casi di autismo né la varietà di forme in cui esso si presenta.<br><br>Per questo da alcuni anni i ricercatori hanno iniziato a studiare altri fattori genetici che possono contribuire al disturbo, concentrandosi in particolare sui cosiddetti fattori epigenetici, vale a dire sostanze presenti nella cellula (per esempio particolari enzimi) che sono in grado di influire sul livello di espressione dei geni ma senza alterare la sequenza del DNA.<br><br><figure class="gmail-img-left" style="display:block;float:left;margin:0px 10px 10px 0px;width:460px"><img src="http://www.lescienze.it/images/2018/04/19/130056641-8ed497f0-a785-40dc-b8d1-f3dd240ed6e0.jpg" alt="L'influenza sull'autismo del DNA esterno ai geni" title="L'influenza sull'autismo del DNA esterno ai geni" height="316" width="460" style="border: 0px; font-weight: inherit; font-style: inherit; font-size: 14px; font-family: inherit; vertical-align: baseline; margin: 0px; padding: 0px;"><figcaption style="display:block;color:rgb(68,68,68);font-size:11px;line-height:13px"></figcaption></figure>Minore attenzione, invece, era stata dedicata alle cosiddette variazioni strutturali non codificanti del DNA, come le duplicazioni o le cancellazioni di sequenze di nucleotidi (i "mattoni " costitutivi del DNA) in regioni del DNA che non codificano per proteine, ossia al di fuori dei geni.<br><br>William Brandler e colleghi hanno sequenziato il genoma di 9274 soggetti provenienti da 2600 famiglie in cui erano presenti casi di disturbi dello spettro autistico, ponendo particolare attenzione alle variazioni nella parte non codificante del DNA. I ricercatori così isolato 829 famiglie - per un totale di 880 soggetti affetti da qualche forma di autismo e 660 sani - nel cui genoma non erano presenti varianti di geni, né ereditate né de novo (cioè insorte durante il processo di formazione dei gameti per un<span> </span><div class="gmail-adv gmail-adv-middle" style="border:0px;font-weight:inherit;font-style:inherit;font-size:14px;font-family:inherit;vertical-align:baseline;margin:10px 0px 10px 10px;padding:0px;clear:both;float:right;display:inline"></div>errore di copiatura del DNA) note per essere in qualche modo associate all'autismo.<br><br>L'analisi genetica condotta dai ricercatori ha mostrato la presenza di diverse variazioni strutturali non codificanti del DNA che erano state trasmesse con una frequenza molto più elevata ai figli affetti dal disturbo rispetto ai fratelli e che riguardavano per lo più i cosiddetti elementi cis-regolatori, regioni del DNA che contribuiscono all'espressione di un gene e che si trovano (a differenza di altri regolatori) nelle immediate vicinanze del gene.<br><br>Inoltre Brandler e colleghi hanno anche scoperto che il contributo dei genitori a queste varianti non è uguale, poiché vengono ereditate dal padre in più della metà dei casi.</div></div></article></div>

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<br></div><div class="gmail_extra"><br><div class="gmail_quote">Il giorno 28 aprile 2018 14:16, Francesco Barale <span dir="ltr"><<a href="mailto:francesco.barale@unipv.it" target="_blank">francesco.barale@unipv.it</a>></span> ha scritto:<br><blockquote class="gmail_quote" style="margin:0 0 0 .8ex;border-left:1px #ccc solid;padding-left:1ex"><div dir="auto">Buongiorno. Segnalo l' importanza concettuale del lavoro di J. Sebat e coll. (primo nome W. Brandler) dell" Università<br>della California (Department of Psychiatry e Center for Genomics and Psychiatric Diseases) apparso su Science del 20 aprile.<div dir="auto">Non offre rapide soluzioni al puzzle, tutt' altro, ma indica importanti aree di ricerca sulla regolazione dell' espressione genica e importanti percorsi (che coinvolgono anche le mutazioni de novo).</div><div dir="auto">Cordiali saluti</div><div dir="auto">Francesco Barale </div><div dir="auto"><div dir="auto"><br><div data-smartmail="gmail_signature" dir="auto">Prof. Francesco Barale<br>Emerito di Psichiatria<br>Università di Pavia<br>Via Cappuccio 7, 20123 Milano<br>mailto: <a href="mailto:francesco.barale@unipv.it" target="_blank">francesco.barale@unipv.it</a><br>M. 335.298458</div></div></div></div>
<br>______________________________<wbr>_________________<br>
Lista di discussione autismo-biologia<br>
<a href="mailto:autismo-biologia@autismo33.it">autismo-biologia@autismo33.it</a><br>
ANGSA (Associazione Nazionale Genitori Soggetti Autistici).<br>
Fondazione Augusta Pini ed Istituto del Buon Pastore Onlus.<br>
Per cancellarsi dalla lista inviare un messaggio a: <a href="mailto:valerio.mezzogori@autismo33.it">valerio.mezzogori@autismo33.it</a><br></blockquote></div><br><br clear="all"><div><br></div>-- <br><div class="gmail_signature" data-smartmail="gmail_signature"><div dir="ltr"><div><div dir="ltr">Prof. Carlo Hanau<br>già docente di Programmazione e organizzazione dei servizi sociali e sanitari<br>Università di Modena e Reggio Emilia e Università degli Studi di Bologna</div></div></div></div>
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