Introduction to Genetics and Evolution : Week 1 Podcast Transcript This podcast has been created from my own notes

that are taken from the video lectures. Some points have been e panded on or clarified with the help of the optional readin!" or by somethin! # found or thou!ht of that may help with retention. The information contained in this podcast is what # feel are the important points" but #$m mostly skimmin! the surface. # am not an instructor" a T%" nor am # associated with &oursera' #$m a fellow ())&er who wants to help others succeed in this class. #$ve done my best to make this decent and factual" but if you happen to come across an error" please email me at autumncoursera*!mail.com. Thanks for listenin!" and !ood luck+ Welcome to Week 1 of #ntroduction to Genetics and Evolution+ #$ll be your host %utumn as we embark on this fascinatin! adventure into the Genome. This weeks topics included: % General #ntroduction to Genetics' #nheritance' Genetic Scales' (itosis" (eiosis" and Ploidy' ,asic Sin!le-Gene #nheritance' and .-/inked #nheritance and #ndependent %ssortment. So let$s 0ust 0ump ri!ht in then. DNA (Deoxyribonucleic Acid) is hereditary material that is comprised of nucleotides which are represented by the first letter of the chemical they are made of" which include %" &" G" T. Genes are a basic physical unit of inheritance" they are passed from parents to offsprin! and contain the information needed to specify traits. Chromosomes are or!ani1ed packa!es of 23% which have !enes alon! their len!th. #t is the code inside every cell in your body and affects 43)T e plains5 how you look6feel6learn6interact with the world and your predisposition for certain diseases. 2ecodin! our !enome helps us understand ourselves" other livin! thin!s" and evolution. 7uman Genome has 89:";;; protein-codin! !enes" and many other loci that make up its 9: chromosomes. Gene mappin! is important because it is how we find !enes that are associated with traits of interest. % lot of the !enes that are associated with diseases have alleles (variants) within them that have been genetically mapped, which means that their position has been identified within &hromosomes. Genes that make it into the news have a tendency to be sensationalized which means that the information is presented in such a way that it catches the public attention" but does so at the e pense of accuracy. So when you hear somethin! about the new <fat= !ene that$s been discovered in the news" it$s true that there is an allele that does seem to be associated with bein! fat" but it may not hold up a!ainst further testin!" it could be limited to one ethnic !roup" or there may have even been a flaw in the ori!inal study. 23% testin! can be used for paternity tests" criminal investi!ations" and forensics. Personal !enotypin! services also use 23% testin! to accurately report your %ncestry" such as Global )ri!ins and %ncestral /inea!es" and to predict 2isease >isk" &arrier Status of Genetic 2iseases" and how well you may respond to specific dru!s. Genetically determined traits are passed from parents to offsprin! by inheritance. We$ve all seen familial resemblance" we look like our parents relative to other people" but we don$t see as much familiar resemblance" or other traits such as #? in adoptees. 2arwin attributed this to <!emmules= but was unable to e plain it. !lended inheritance was thou!ht of as traits in offsprin! bein! determined randomly from a ran!e of traits found in the parents. %n e ample of this would be hei!ht. #f the father was @ feet tall" and the mother was A feet tall" the offsprin! would have been e pected to be a hei!ht between that ran!e. The problem with this hypothetical model was that if it were true" over time we would lose all variation in population"

and evolution by natural selection wouldn$t e ist because traits would have been <blended away= before the much slower processes of natural selection could act upon them. There was also the thou!ht that variation had to be created or renewed. 7ow do you <create= variationB Well" you chop off your left arm" then chop off your offsprin!s left arm" then have them chop off their offsprin!s left arm eventually somewhere down the line your descendents would stop bein! born with left arms. /ets use !iraffes as an e ample for renewal. Giraffes have lon! necks' renewal states that this is because they$re always stretchin! their necks to reach leaves up hi!h in trees" but if they were to stop" their necks would decrease in len!th with each !eneration until they started eatin! leaves barely within their reach a!ain. "articulate inheritance was the brainchild of Gre!or (endel and says that offsprin! are not a simple copy of parents" they$re not necessarily the <midpoint= of parents" traits can be <masked=" and therefore variation is maintained. #nheritance is similar across most animals" and many plants and fun!i because many of the same proteins and structures are involved. (any species are diploid which means that they have one !ene copy from each of two parents. ,ecause of these similarities" we can use <model or!anisms= 4fruit flies" mice" fro!s" chickens" etc5 to understand inheritance because they$re easy to work with and we assume !enetics apply broadly. Genetic information is translated into the phenotype 4how somethin! looks6acts5 throu!h proteins. This is achieved by three primary levels of !enetic information. 23% replicates itself" and its replications 4offsprin!5 are called #NA (ribonucleic acid). $essenger #NA (m#NA) is translated into a chain of amino acids and that is a protein. To elaborate" the formation of >3% from 23% is called transcription % 23% is a double stranded structure with complementary pairin! of the nucleotides %&GT. % pairs with T" & pairs with G" G pairs with &" and T pairs with %. >3% switches the T to a C 4a different chemical5 and so then % pairs with C" & pairs with G" G pairs with &" and T pairs with %. %fter it is formed m>3% leaves the nucleus and enters the cytoplasm to direct the formation of amino acids and in doin! so is translated to a strin! of amino acids. The code for translation is : bases each (&no'n as triplet code) and the translation continues until a stop codon interrupts the production of a protein. There$s @D combinations 4D bases to the :rd power DEDED5 which can be looked up on a >3% codon table. @1 are associated with a total of 9; amino acids" and : are stop codons. Genes often have amino-acid-codin! se!ments" but some se!ments do not have this function. (ntrons are areas within !enes that !et spliced out of m>3% after transcription" but before translation" and therefore do not affect the final amino acid seFuence. %reas between !enes" or intergenic regions" are often functional' they re!ulate how much m>3% is produced" and sometimes even produce other >3%s. So in the same way as the introns" inter!enic re!ions won$t affect the actual protein seFuence" but opposed to introns they may affect how much a !ene is produced. "loidy is the number of complete copies of !enetic information in a cell. Di stands for two" so in a diploid cell there are two complete copies" 1n from mom and 1n from dad. $itosis be!ins with a diploid cell which has two homolo!ous 41n5 chromosome sets in each cell. There is a very short Dn sta!e" where 9 pairs of &hromatids that are <identical= pairs 4copies5 of each 1n chromosome set e ist. Each pair then splits and 1n from mom and 1n from dad form 9 dau!hter cells. #t starts at 1 cell with 9n" and ends at 9 cells with 9n. (itosis is essential for !rowth and development" mutations in !enes that control mitosis often lead to cancer. To clarify that 0ar!on" mitosis produces two diploid dau!hter cells !enetically identical to each other and to a sin!le parent diploid cell.

(eiosis produces haploid 41n5 dau!hter cells with one copy of one set of !enes from a parent diploid cell. #t starts with 1 cell that has 9n and ends at D cells that have 1n. #t is the precursor to fertili1ation" which is where 1 meiotic !amete from two parents from a new 9 diploid cell" called a zygote" where half of the !enetic material of this new cell is from the mother and the other half is from the father. #f two copies of a chromosome from one parent are in a cell when fertili1ation occurs" : copies are present and can cause 2own Syndrome or Glinefelter Syndrome. % very simplistic and non technical description to differentiate between the two: (itosis is one !uy with 9 apples and 9 oran!es to split between two people. 7e !ives each an apple and an oran!e. 7e never !ives a person two of the same kind. (eiosis would be him splittin! 9 apples and 9 oran!es between D people" he can only !ive each of them 1 of 1 type of fruit as opposed to two of two different types. Hor $endelian (nheritance #$m !oin! to skip over a lot of the actual !amete combinations" the Punnett SFuare" and ratios 4because there$s way too many words5 but they can be found in my notes if you need to brush up on them. (endel postulated that !enes factor in pairs" one allele from mom" and one allele from dad" and also that sometimes offsprin! are an intermediate of the two parents" but dominant and recessive alleles e plained how phenotypes can <reappear= in later !enerations. $endels la' o) independent assortment says that you are no more likely to pass on your mothers chromosomes than your fathers chromosomes. The difference between a dominant allele and a recessive allele is that dominant alleles determine how the offsprin! will look. )nly when both alleles are recessive which is termed homozygous 4this can also be applied when both alleles are dominant5 in the offsprin! will the trait be <unmasked= and show throu!h. )ffsprin! with one dominant and one recessive !ene are called heterozygous because they have both alleles. #f it will help you remember which is which" homo is taken from a Greek word meanin! same" whereas hetero taken from a Greek word meanin! different. #nheritance is sometimes different based on the se of an individual' this is called -linked inheritance. #n humans" males have the chromosomes . and I paired while females have two .$s. 2espite the pairin! of the . and I chromosomes they$re not the same set of !enes" and often there are few functional !enes on I. This makes males the e ception to the rule that we have 9 copies of each chromosome" and it e plains why some !enetic diseases are much more freFuent in males than in females. #n x*lin&ed recessive disorders" a female will only show the phenotype if both mother and father carry the allele" whereas a male with the phenotype can only be produced when the mother carries the allele. %n e ample of this is that if the father was #ed*Green Colorblind (#GC!) none of his children will be affected by the mutation. #f the mother was >ed-Green &olorblind but the father was not the dau!hters would be fine because they inherited a second unmutated . from their father" but her sons would show the phenotype because they inherited a mutated . from their mother. That about wraps up week 1. #f you feel so inclined" please send me some feedback on what # can do to improve these podcasts for future weeks. Thanks for listenin!" and # hope you 0oin me ne t week+