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Honors Course in Greek

by: Gail Dare

Honors Course in Greek GREEK H195

Gail Dare

GPA 3.67


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This 24 page Class Notes was uploaded by Gail Dare on Thursday October 22, 2015. The Class Notes belongs to GREEK H195 at University of California - Berkeley taught by Staff in Fall. Since its upload, it has received 26 views. For similar materials see /class/226677/greek-h195-university-of-california-berkeley in Greek at University of California - Berkeley.


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Date Created: 10/22/15
Gene 9 phenotype Other genes 9 epistasis 9 variable expressivity sicklecell anemia The en vironment 9 norm of reactionquot 9 variable penetrance BRCA1Induced breast cancer Epigenetic effects Epigenetics Mitotically andor meiotically resistant inheritance ofa phenotypic difference that occurs without a change in the DNA sequence Maize corn Zea mays Caunesvavm iswaum MCB Dapanment R Nexandev n k h m 2 nmasu i H M a A critical aspect ofthe paramutation process one What 398 90mg on hat is shared by many epigenetic processes his 2 amutatiun a melnllczlty heiitabie than 2 in it is Sensitive tn the Envirunrnent the phenut in Die piari that iesuits nut inmthE physicai paramutatiun can be variabiy Expressive in uthervvurds aiievaimn We immavy the Extent mi paramutatiun can vary and huvv VariabiE DNAsequence utthe undeiiying genes butiium an siisci mi thEii EX iESSiDVi s cum iumiSEthat it is can be specified bythe Envirunrnent ism in a heteiuzlguus uiganismiuims ii 2 at a iant inthis case the cumpinmiss is nut reached The Pi aiieie sumehuw causesthe EFigEnEtic siiencing utthe Pi a is 2 rsiiencing that mEiEI psisisismiuugi sis Grandpaternal seedling conditions cWmnwammtm 32C LL 22C LL minimal mm or Herinhle Emmac camp in Pmullm 71m Expunion using Taipeium Ind 55in u Sped c Stage of my Dadupmtnt in Mm my againquot a mi Wmm a mm mm mm i m4 mm mini ii iii mi Jmi r lihkmi39m39i i mimiLLii u 61m s Mimi Ms i ikk w M quotiiiquot am quotmy mi New if 4m M W i Wm mm emissim ms 1387 An evolutionary perspective Persephone the Greek goddess of Spring n c Mimi le to monitor hcriublc Effect of mimiimm on cpigv mm quotan rhangr ii a qtlik pmblr huhtwri mu lhmc inquot Dr gm malth miiasuiew Munshhl ii iiir Fm mmKism m nun muniv i mnim4uiiim WAhSammg 1 in ii mappmm ax in outed umhd tmmnuniprmdingmr kgcnu yleprmnl amt mm of minim innltmuismx snared M many gcncuc m iii 95ch imam to help garcth plugnml m quoticnm midis mini rxpclitnzzquot mm i932 Mikulli sl endics1m13791387 A bit of plant biology the seeming Vernalization paradox of vernalization Vernalizatiun is the pruness by Which prulunged Expusure Aiemenmeieebbeveaem tn Enid temperatu mules fluWEririg Munucarpii species senesce a erfluvvering and setting see Plants that require vernalizatiun m fluvver thus V typically require Wu seasunstu urnplete the life cycle and are usually classified as biennials ur Winter annuals i terannuals and biennials became Established in requirement or such plants prevents fluvverin until i Wm memes W m Sp H 9 ha 5 arm a W 8 quotWE inmziea tawennvhm i ien name We me e m R Aniasria er u i R Aniasiria er i Yhe vernalizalianeriiedialed Vepvessiari m L is pi em s2 discussed shave Yhe VEPvessed sate m no is m i i i malize lam lthinkitis reasonableto refer to the 39f Jggj g mws vernalizationinduced mitotically stable pkuescampeienmaiav39vavnw is i expressian a avveviri acquisition of the competence to ower as Epvessm Asexpeded F Cami ssiari isariagaininlhenex genevmmn Yhis an epigenetic SWItch because it is a A m resellingallheepigenelicmc during change that can be propagated through i w e S ge f ex jf mmn sm cell divisions in the absence of the inducing signalquot 2 e e W passage MESS eeneieiw R n m R H mm eeen mm ArabldOpSIS thaiana Halliw and Chandler Alleriiarielal Geneticsival 57 359475 Naluve i 295295 Some mutations that affect flower S Jacobsen and E Meyerowitz Superman Wildtype ower 6 stamens E superman null mutations 12 stamens wild type s JacabseH UCLA i uquot No comment on the nomenclature There are two ways to mutate the SUPERMAN gene and get the same phenotype 12 stamens Justdelete the gene Keep the gene as it and METHYLATE it NA The methylated form is an epiallelequot of U ERMAN and is called clark kent s JacabseH UCLA mt animal Nnrmzl Cell 39 w u h m l i Cancer Cell 39X I hypevmelhylaliun WWW nu aVGeneBadvandBukchmmatin ui CpG lsla s LENClNG wild type S Jacobsen UCLA clark kent mm n was 25 S Jacobsen UCLA Suppressors of Clark kem 39139 3quot Suppressor mutants cms the DNMT ElkSf or kyp ktyptonite Mca nvmnxzn kyp kryptonite codes for an H3K9 histone methyltransferase Jackson Na CMT3 39HP1 39 Me DNA mmhy ation Histone methylauon H 416 EEBVEEEI ZEIEIZ MW mm 7 methylated smbly inanive CH24 NH CH CO Histone methylation dezcelylatad acetylated inactive anive comm N H H MTase HATS NH CHM CH24 NH7CHCO HDACS N HC HCO mm n was 2v 2DD7 5mm cw Mmllly Young Jaemsch 7 Nature EH SE L Bernstem r CEH 1 V V 39 Wade 7 NEW Yurk Twmes quot39 x r s an 4 Mca nvmnxan The molecular basis ofepigenetic inheritance is the deposition and subsequent maintenance through mitosis plants and animals and meiosis plants of covalent marks such as methylation on the DNA and on the histones These marks do NOT change the DNA sequence but they change how the DNA sequence is read The machinery that deposits these marks the dysregulation of this machinery and how the r s are read out are without a doubt the 1 eld of study in genetics today Resveratrul Q 99 M c WMnlnlunm Acs RAPI ABFI A 090 r k g k lggglmmm PH n l Kirrhrmiv n CelHZxZZEW mummy Gene Inactivation Associated With CpG Island Methylation ln Cancer Gene anus Funcninn Cancer Rh 13w ceiwcieveeuialmn Retinublastuma VHL 3p R39NAelunuatiun R nalcarcmu P16 5221 CDKlnhlb Dl Carcinurms P15 5221 CDKinhibnurJGFrprmduced Leukemiaulium Eecaenenn 3qu lnyasiunmetastasissumessur Breas1pru ateuastnc Estmuen R2 e25 Hurmune vecemnv Breast culun can Mela Detumymgenzyrm Pmaale oincw l uz rmer DNArEpair Celllmes calcnumn in Hurmune Leukemialun culun Juries and Baylin Nat Rev Genet ZEIEIZ Jun3E415728 s anlin p16 INKAA loss of function in differentthes of hum an cancer Pancreatic cancer Handneck cancer NSCLCa Wm typo m unmnn m Minimal1n H mm m 3 4 Winn Nulxlxm colon cancel Seamus call clrclnomu at lung n nnnnw u rquot L L lnylmnn w Wm we rm uuunimn m u W1 antennapedia Homeotic mutations W Bateson Genetics Allele Heterozygous Homozygous Not that there has merely been a change but that something has been changed into the likeness of something else How Polycomb and Trithorax work BFlM r complex mm liemudelmgl my I C Essik Mquot complex Hmc W HMTquot ME Mi Cmmnl Opinion in Gavel55 mammal extra sex combs enhancer ofzeste Ez HMTase PubMed un m2 2m leis e 3 Cancer Res 2qu Apr 15558 ADBSVB ldentlflcatlun uf EZHZ as a molecular markerfur a precanceruus state m morphologically normal breasttlssues Ding L Erdmann c Chlnnalyan AM Meralvev SD Klee cc Department cr Pamclcgy University at Michigan Medical SchuulAnn Avbuv 48mg USA The lmpllcatluns m the preventlun uf breast cancer We repuri that the EXplE SlunruHhE Pulycumb gruup pmlsm EZHZ increases in histuluglcally normal breast plihellum Wlm higher risk at developing cancer We ldEnMy EZHZ as a putantlal markerfur detecting preneuplastlc lesluns cum breast in VlVEI and as a pusslble target rm preventative lnterventlun s c 47112 6 3 M X wig p wia N e K27 K27 Gone K27 K27 am a M ca ans Vquot a Res 2qu Aug 3 Rules cf the EZHZ histune methyltransferase lrl cancer Eplgenetlcs CA lmanA ange Nothing in Biology Makes Sense i Except in the Light of Evolution Theodosius Dobzhansky 1973 Why is it called the theory of evolution After all the origin of species by means of natural selection as proposed by Darwin is a theory in the same category with the following theories 39 1 That the Earth is a slightly compressed sphere 2 That light is both a wave and a particle 3 That the ratio of the circumference of a circle to its diameter is 7 314159 David Allis the histone code 39 umnv5crmvanwwmwcmmmw r r nn Fl rhlP arm Genes and the environment Solter and Surahi Gynogenetic embryos very small Androgenetic embryos very large wimi gummy imam 39 Itemsnss mm 739 o a Mmyim Enhancers p Mouse embryo new Nemviasn cm mm quotquot2 mm lnsvlnloi ammoits V The Haig hypothesis Imprinting evolved as a manifestation of parental con ict overthe allocation of resources 0 t e eveloping intrauterine tug ofwarquot over how Paternally expressed genes increase embryo size Matemally expressed genes decrease embryo size Peromyscus polionotus the monogamous mouse The Barr body Xchromosome inactivation In brief early in the development of female mammals e nucleus inactiva es transcriptionally one 0 its X chromosomes remarkably expression offthe otherX is doubled This is somewhat illogical why not just leave both Xs active and is a phenomenon known 5 Its molecular basis is the physical coating ofthe entire c romosome by a noncoding RN called XIST SJ Gould keep Darwin out of it Those who recruit Darwin to support a particular moral or political line should remember that at best evolutionary biology may give us some insight into the anthropology 9 nv u s o 3 I 3 o 9 0 m o 392 m u 399 m 2 a m n m 1 nv It39s All in the Genesquot New York Times 5204 2 m i m 8 o E z E 2 m g ancestors a million years ago on the African savannahs Such a conclusion could not validate the moral worth of these or any other behaviors either then or New York Times 529 The show so far This week what we learn about lhe truthquot from exception 5quot to the story 1 Them sie p meles ulmhemance unis ulsegvegallun 2 lhal pass unchanged lhvuugh genevalluns 3 WWW ammgm Mam W5 1 A pameulargene multiple alleles cumplementatlun A and insieeme nucleus whlch isme pan ullhe eel vespunslble Wm ftquot BMW 3 mp lca m ftquot What a 95 lulhElEdlly lhElE ave ememesemes 1s 5 which believe a cenamway duvln mElDSlS E and 012 Mm seis ulbehavluvs ave vemavkably cuncuvdanl Z A n 7 becauselhe pamcles C genesquot actually physically vesiee an M 5 Ema iheemumusumes 1 32712732712lnlevacllunsgtexpvesslvnygteplslasls a s une can plqu bylhe siuey uleye Eulul mhemance in mi 2 Generemwunmenl lnlevaclluns penelvance nuvm ei lES VEaEllun a andlu halmula a given ememes me esmes muvelhan nine 3 em and 7 s WWW gene as dlscuvad when linkage was ubserved 1n sneme avian emenl ulgenes an a ememeseme l5 3 lineav une wnh a spec 1e XEd genellc dlslance sepavallng une gene mm snemei 11 lhal une can expevlmenlally measuve by masses The mPruImg or the min multiple eiieiomoipiis my be iiiuiiiiiieii by ihe following c 11le l a ii iiiie ey male of Emmihill is mated m e eyed mimic he F1 nuio oi 3 mds m l i39liiw is explniiiml i ll 39 39 More on what a gene is allelic series may nllclumm moipiie em or nd whilei 2 ii an c l l mule llic F IMAD of 3 mis o 1 ii a irlw snmew Lcye m e is bxed ei d rem again 39Vplmned by milking main and whim nlk39lo impris There are hm w meat and whcncvnr ilwv dn diev behave quot5 iideis la an the besis that Hie Lhe allelomoi ph of me actor for usln Ivei me is mined in n chc m u in is also 9 05in and mi m illlelomol phs 39 toun cosin In me F3 misc 013 twins to 1 whim is iiii e factors imy mm a which iihs They form ii sQsium ui iripie allcln oi iiie Lhmmmnmc iiypuihivsis he explanuuun ul ibis reiiuimi is 3 IL A minim factor is located 39is mini in 1 ii icu normal nllulumorph is suppewi w m mudmg position rimm ii me humolngv m I H a e om so i iuihei minniion occurs in we same Vlm e ne l b39 urmm ALHIMHKINPH Um new fiwlor musv ml as an allclmnorph in HM rst mumnl us well as iii lillc quotpmmquot numinl alielu iiiuriihv lesseml rnmlhe Greek mm m lhe Murmurnun mquot hunnglnhmnvlmy TWO perSpeCtlves Complementation test on the same thing Cemptementatmn test a Waytu de ne what a gene S A Complementation is the production of a gene S 3 WM uf gEnEUE eurnpternentatmn ftvvu reeesswe mutatmnsthat exhtpttthe sarne phenutype W39Id39type phenmype When two haplo39d FAtLte eernp Ement eaeh ethen then th V are mine nomes bearing different recessive sarne gene nutethattms de nes Whata gene Wsrtt s h the entne Enmy recesswe mutatmns m Whmh up nut mmat39ons are un39ted 39 the same cell39 eemp t eaeh ether men W Wu recesswe mutatmns that exhtpttthe same pharynwa eernpternenteaeh uthen they are m mnerent genes by defmmun What exac y S cump ementatmn Edward Lewis NP 1955 The sistrans test Orgo Make two different fly lines and compare their phenotypes as Trans l is a cuntrul experiment The llieswlll be Wild regardless utwhether as and g are m the same gene m nut uni s rtype mulzlinns z ltthe phenutype then as and 3 same 3 are m in l nnrm 2Ihen dillerenl genes is still mutant mus1 be m the enelll H30 CH3 H30 H aka complementat39on test clSVZVbutene transrzbutene The cls trans test 1949 lozenge M Greene Cis Trans W0 different recessive mutants both with the same phenotype small eyes and tusedtacets k s k 1 s W What is the relationship of these two mutations to each I other Why this is useful and how this relates to the earlier definition of a gene Mendel lacked the ability to engineer c romo e quot nd perform crosses of such i n Hence Mendel s gene is a unit of segregation the minimal entity that moves through crosses and results in F2 phenotypes segregating according to Mendel s laws is a gene The complementation test offers a crisper de nition of what a e equot i and as we know m molecular analysis highlights the molecular complexity of gene architecture genrsonhmanrhmmwmquot w l t lil in autumn elm mm cl l mm mm 1 A in an n unwrap wesses 3541quot complex 9 I 20 m iu so mu LCR m mnsgene Rugran batman genes r39 7 i rinrisgmm in men tails to be imiiseuueu m Dvoper imis Iiicmlon tnm i arms g m g sage of Miami quotM 9m gm aim Mary a men 1 Mochlnllm 1 lrlnlc pllonll ullvaunn rwA poiyniomsa Basal amok Qwrimian ll elem 1812 A remarkably useful aspect of complementation testing All traits that organisms exhibit from an ability of convert sugar to ATP glycolysis Krebs cycle oxidative phosphorylation to the ability to not bleed to death from a simple cut blood clotting cascade require the function of multiple proteins each encoded by a separate gene Complementation testing provides a powerful tool to take a large number of organisms exhibiting the same phenotype of interest and bin them according to the specific gene that they have a mutation in Sex determination in mammals is a genetic process XY XXSry transgene Kuuprnari etai 1991 Nature 351 117 Q U Shmoo 1948 7 Lil Abner AlCapp r a minimum nrmmim Sautan vupuwc u iiwmi wen u quot mm niwri mm 0 mm thllmvd use new a Mani Mating type determination in yeast has both a genetic and an epigenetic component A Wilda e napiuig yeast cell cuntains TrigSE Empire at rnating type determining genes Cupy 1 tne e1ang 12 genes silent Cupy 2 tne a1arid a2 genes aisu silent Cupy 3 An aggitiunai cupy er genes in itern l uruf tne genes in item 2 but a ivE vvnieneyer genes are cuntained in cupy 3 determines tne rnating e Tnis rneanstnat a napiuig yeast cell 7 wnateyer its rnating type r nas Wu igentieai genes in its enurne urie urnnien is a lVE an tne utnere siienti HMLm mam HMva SIR quotaquotmatingtype OFF ON OFF MUTAGENESIS HMLd mata 1 HMRa sir quotaquot maling lype ON ON ON 1 mate to a cells N Jasper Rine and lra Herskuvvitz 1987 Genelics 116 9722 comaom km m u rum A trait that results from the action of3 genes ABCtrait a torWm humidquot 5 Havetwo yeast strains 1 s Mum and 2 malarial 7 Let s MATE 1 and 2 and f 34m ask is this diploid wild Dumg type orrnu an Well irthe mutation in1 is in gene A and 39n 2 in gene Bthen the diploid will look like this Aa Bb cc wild type lrthe mutation in1 and in 2 is in gene 3 thenthe diploid will look like this AA bb co rnutan MEBi nnv mm Simple Mendelian inheritance in humans The complexity of the truth MEBi nnv mm The data 0 Colonies screened 675000 0 Colonies that mated to a 295 0 Major complementation groups 4 silent information regulators SIR1 SIR2 SIR3 SIR4 JasperRine and lra Herskuvvitz 1987 Genelics116 9722 MEBi n visnxzn Resveratroi 2 2 mil Google hits r fly mam Hea Il h mun mmu ii l ulu nun Lililli slum mi iwh ii quot Zm l Lagouge et al Cell 127 1109 autoso xeiinke xeiinke A Autosomal dominai iL leii39lked m al recessive d dominant MEBi alumina Sumnnevega Mnsukau nee Yvacvchapman Gene for starting businesses ifyuu belting re a certain extended family in Seattle yuu re prubabiy an entrepreneur it seems in be abuut the uniy careerrnany uft rn e i cud We EDuSinS and Gr e bruther mother randfathertvvu uncles eernpanres and say ud an aunt all starte and ran their own eycannutimagine any utheriiveiihu rne eir enrernesernes lurks an actual entrepreneurial gene W thattheirbentfurbusiness reaiiyis lri theirbiuud Newvmr n n n n Musk In In m cm mumMWMMMWWW inf4 km M r wee mm memean mum cow Wu W wmwom NewVarkYims r Nermmepee 7 e The God Gene Modern science is turning up a possible reason whyt e religious right is ourishing and secularliberals aren t instinct It turns out that our DNA may predispose humans towards religious faith Dean amer a prominentAmerican geneticist even identi es a particular gene VMAT2 that he says may be involved People with one variant ofthis gene ten re spiritual he oundquot n meannerng YimeSJrinDS A useful litmus test to distinguish pure conjecture handwaving from statements that are evidencebased PubMed via Google Search Hamer au AND vmat2 Gene Variant ls Linked to Common Cancelled health Insurance Type Stroke NYT 1907 Kevin McCormick called today There s 39atizifgtii3939533mi imlitfiiimmt mm 0m lawsuit W the Weller family in metals 55343231323Tl 39 iilifiiiille Game This me 5 the 5 quot the deceasedi 2323l liiiXilkifl e iliimiill Li39 l kquotquot39 339 li il T m Apparentlyi his heath C39L39u39sl39iLLlEJF JESuiii XQSHSESiitTMQSiSEl lieiliquotlie ller insurance got cancelled39 ubstiuctiuii can be caused by a blend elut a buildup uttatty depusits l C quotCamus cells iii blend vesse s ui a quot 7quot The researchers stu ied 12 Japanese an uuhd thatthe variant ut ecau se 39 the EHETPhR KCH tum ed up m lEdu Ezln pi le whu had had His father has the BNB71 gene for heart emmsigaggegmpm E quot 2 WWW 39 sequot a mac Mimaei CYlCMnn 7 New A reminder from the Boss himself m Well you may think the world39s black and white And you39re dirty or you39re clean You better watch out you don39t slip Through them spaces in between a am In Run am n the u sn time SWihgsIeeri the nu Crass My Hem Sicklecell anemia a brief history In the western literature the rst description of sickle cell disease was y a Chica o physicia James B Herrick who noted in 19 a a patient of his from the West Indies had an anemia characterized by unusual red cells that were sickleshapedquot By 1923 it was realized the condition is heredita In 1949 Neel realized that patients with SCA are homozygous an e erozygous carriers have a much milder condition sickle cell trait Sickle cell anemia gt NH Sickle cell anemia ism must cummun inhevited bland i c a and seyeve lMEEtlEInS usually beginning in eavly Ehildhuud Pleiotropy Linus Pauling 1949 HbS has different charge V Ingram Nature 1956 On the existing evidence alone it is not possible to decide whether the difference the folding ofthese chains leading to the masking of some aminoacid side chainsquot The third mostfamous experiment in the history of molecular biology Digest Hb A and Hb S with trypsin protease cuts hemoglobin into 30 peptides Separate resulting fragments by el ctrophoresis and then by chromatography Trace the peptide map v lngvam mass Nature n 792 m w w n quota nu Correct One can now answer at least partly the question put earlier and say there there is a difference in the aminoacid sequence in one small part ofone ofthe polypeptide chains This is particularly interesting in view ofthe genetic evidence that the formation of hemoglobin S is due to a mutation in a single genequot v lngvam 1955 Naturenn 792 RFLP Incomplete dominance EH 32 mquot w t dominance WA 439 A whma rvll lnm Comma Nami mntmnmrlntw i quotmam lv mvrquotclnwm mth A ml A m manvmain CLW39W mm t x uxh mm hapiothsumoteht 1 Take gel ieO 2 o w ldrtype 3 Complete lack ofO let s call that allele o mutant Normally a gehe that s a seht makes fora recessive allele which makes sehse e the Wildrtype copyvvlll still work so the Wildrtype allele Will be oomrhaht over he is gohe BB kthg allele 4 The heterozygote however eg do has a mutant phenotype You have to have two alleles worth of protein to have a normal phenotypel heh a gehe l5 aplold that s hot sumoteht MEET m mm Penetrance and expressivity Plrennlvl tic Mmestzlon cam oval mpmsnnls an muntuna o o t nofmito Vananle exoveasmtv Variable pcnalmncc t j 0 t r t Ll varmme nnnmmncn m expmystvliy The terms penetrance and expressivity quantify the modi cation of the in uence on pheno pe of a particular enotype by varying environment and genetic background ey measure respectively the percentage of cases In which atparticulartphenotype is observed when the specific allele 0 a gene 0 interest is present and the extent of that ph notype MEET nnmsnxsn Variable expressivity The importance of genetic background epistasis MEET m mm Man s best friend from a scientific perspective as well MEET m mm Treatment Directed at the Relief of Symptoms Painful Episodes In a given year about 60 percent of patients with sickle cell anemia will have an episode of severe pain A small minority of patients have severe pain almost constantly These differences are one manifestation of the heterogeneity of this disease which complicates the choice of treatment Episodes of pain are sometimes triggered by infection extreme temperatures or physical or emotional stress but more often they are unprovoked and begin with little warning MEET nnmsnxsx Recessive epistasis 934 cwwpmu mm an w n n A ItMIl crou ammo munn rmqu at no v ES 55 t m M Fam39t a r p WWW j quot MEET nnmsnm Dominant epistasis 133 Wamwmnucmm Mmmmwmmumu m Emmanuelml m ArwmwmyMMMMI my m w Wm 4 mo ulna um m n my mum m Aujuwvuwuce we mm ma s um w mu m Am 4 W Complementary gene action 97 w ma a w ww m w WWW wm m m ucn nmm mm 3 w munu a mum WM wwm 1W mm mm um mm AH n mum mmmnu u u v n 1 n rm mm on i V w w u y 77 4mm me Hmqu mm mwwmu mu m mum mum Knan m w y 1 1 u v a quotMumu 4wh m sW mm v 1 x I H WW1 un mmm v 1 3 x m ms m I t I mm a L arm a n 4gtywltmww m 1 cat 333 r M 1 4 mmquot a m now M mg 318 the stadium capacity is now officially listed as 75662 u Painful episodes curc winl39nl rpmth m mt mum cllruml mmquot u39 urklc ml mm m m I mmmw umin munn pluchUu39 mtr mt mm muttrumor ummi 7 m kmm 1qu Almm llc gunqu nunlllldimn Hi un m mm ull rncmLL Stelnberg Curr Opin Hemamm 131 An SCN9A channelopathy causes congenital inability to experience pain Nature Dec 14 2006 The index case for the present study was a ten yearold child well known to the medical service a er 7 regularly performing 39street 7 theatre39 He placed knives through his arms and his fourteenth birthday a er jumping off a house roofquot So let s think about this The small fraction of AfricanAmericans who are relatively painfree could they be heterozygous for a lossof function mutation in SCNQA In other words could this be recessive epistasis If yes could this suggest that a smallmolecule inhibitor of that specific pain receptor could be a more effective analgesic for SCA patients than Godawful parenteral morphine Calling Michael Crichton Gene for genet39 that can lead to the develo ment of more i p r s T e multigenic origin ofthe variable p e otype in sickle cell disease wrll serve as a paradigm for the study of variation in phenotypes of all single gene disorders in manquot Curr Opin Pediatr 2001 Feb13122 7 The Ob mouse 7 I 2 LA um mm Phennlyplc mressinn mm war mpmsnnlsnn individual Variable penetrance 0 0 0V The importance of the environment AND genetic background ii quoti or39 a Variable panaiianca m axpmssiviw Hereditary breast cancer caused by Risk of breast cancer and physical exercise in mutations in BRCA1 is incompletely BRCA12 mutation carrrers an example ofhow the t t norm of reaction illuminates the modification of a pene ran genetic tendency by the environment i F Bmaslcanml H a om mmmwmmd quotm Wm Physical exercrse and lack of am cannianddeceasea obesrty in adolescence were A associated with significantly 1 delayed breast cancer onset u acumen1mm u mm M 7c King etal Science mus mm Norm of reaction A plot of carefully measured phenotype in large pool of genetically identical individuals grown under a range of environments Norm of reaction of 39ggg dirrerent genotypes or m Three mutants that affect facet tneuariocusto m winin tern erature Note in 60 enerai tnatWiidtype riies have a tendency 5 t n ve rnorer cets 400 thanthetwo ut ts 2 files however have g 300 iessracetsa tne 3 temperature increases 2 so one cannot ciairntnat 3 zoo inrabar e genoty g predi poses to racetsi Further ultrabar ends to have iess Wild type Infrabar Ultrabar Lice m gf ls T Q b nas Slightly rnore racets Tnis rneans tnat tne gene ic predisposition or ultrabar cannot be V quotw M stated in one sentence m Tempe39amia C so Hign elevation Take 7 yarrow plants grow cuttings 39om each one at different elevations a st 5quot Medium elevation Measure each child E at each elevation g g i i i ii 0 SD Low elevalinn W to i 2 a i 5 5 7 Patenlal planl lsomce oi culhngs lb 4e vi 0 0 Plant height cm 9 o A fact and a problem Fact what we do is a function of what we know and many other things of course Problem our knowledge comes in shades of 20 gray but actions tend to be blackand white 10 0 30 3000 Elevation m People with insuf cient education in genetics AND statistics and not enough time to look at the primary data Data Pulicy i Policymakers 2 Health insurance curnpany cirnciais i p 3 Health care pruvidErS i e i p pny5icians g Journalists Me Write about science and medicine for mini newspapers The patients themselves


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All subscriptions to StudySoup are paid in full at the time of subscribing. To change your credit card information or to cancel your subscription, go to "Edit Settings". All credit card information will be available there. If you should decide to cancel your subscription, it will continue to be valid until the next payment period, as all payments for the current period were made in advance. For special circumstances, please email


StudySoup has more than 1 million course-specific study resources to help students study smarter. If you’re having trouble finding what you’re looking for, our customer support team can help you find what you need! Feel free to contact them here:

Recurring Subscriptions: If you have canceled your recurring subscription on the day of renewal and have not downloaded any documents, you may request a refund by submitting an email to

Satisfaction Guarantee: If you’re not satisfied with your subscription, you can contact us for further help. Contact must be made within 3 business days of your subscription purchase and your refund request will be subject for review.

Please Note: Refunds can never be provided more than 30 days after the initial purchase date regardless of your activity on the site.