Class Note for ANT 270 at UA-Intro To Physical Anthropology(1)
Class Note for ANT 270 at UA-Intro To Physical Anthropology(1)
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Date Created: 02/06/15
The Biological Basis of Life Molecules and Cells Necessities of Life Reproduction so that life can continue generation after generation 7 Facilitated by molecules from the chemical family of Nucleic Acids Maintenance of essential physiological functions oflife metabolism 7 Facilitated by molecules from the chemical family known as Proteins Reproduction DNA Reproduction is based on the accurate duplication of DNA The precise and accurate duplication of a DNA molecule known as Replication is made possible by the chemical structure of the DNA molecule DNA Structure Ladder or latticelike molecule composed of smaller building blocks Nucleotides Nucleotides are composed of three subunits 7 Sugar deoxyribose for DNA 7 Phosphate 7 Nitrogenous base the key to the functioning of DNA Purines 2 NC rings Adenine Guanine Pyrimidines l NC ring Thymine Cytosine DNA The sides of the DNA ladder are composed of bonded sugar and phosphate the rungs are based on hydrogen bonds between complementary nitrogenous bases The key to DNA function is the complementarity of the bases Adenine bonds only with Thymine and Guanine only with Cytosine smwn V ELSES 3 r Replication g r 5 r Maintenance Life functions are regulated by proteins 7 Structural proteins like the muscle cell building block myosin 7 Regulating proteins including enzymes and hormones like the enzyme that breaks down starch molecules salivary amylase 7 Transporter proteins like the oxygen transporter hemoglobin Protein Structure and Function Function of different proteins is based on structure Structure is determined by the number and type of building blocks called Amino Acids Amino acids are assembled into chains called polypeptides A functional protein may include several polypeptides Protein Synthesis The sequence of amino acids in a polypeptide is determined by the sequence of nitrogenous bases in the DNA unit or gene coding for that polypeptide Protein synthesis is a twostep process 7 Transcription copying the DNA to RNA 7 Translation using the RNA to assemble the polypeptide Fig 213 mm mm m m DNA mm mm 2L1 m How does this work in Humans The Hemoglobin molecule is a complex protein structure that carries oxygen and carbon dioxide through the blood stream 7 It consists of four polypeptides 2 alpha and 2 beta chains 7 Each of these polypeptides has a separate section of DNA carrying the code for the appropriate sequence of amino acids Each alpha chain consists of 141 Amino Acids requiring a sequence of 423 nucleotides in the DNA 0 Each beta chain consists of 146 Amino Acids requiring a sequence of 438 nucleotides in the DNA Mutation Even small changes to the sequence of nucleotides in the DNA can have signi cant repercussions in terms of protein structure and function 0 Changes can involve single nucleotides or large groups of nucleotides The result of mutation is determined by What it does to the protein structure Sickle Cell Anemia Sickle cell anemia is a genetic condition caused by a m mutation the change in one nucleotide Within the sequence of 438 bases coding for the hemoglobin beta chain 0 The shift in the 17th nucleotide from a Thymine base to an Adenine base causes a shift in the 6th amino acid from glutamic acid to valine Sickle Cell Anemia The change of one amino acid results in hemoglobin that has a tendency to clump together and destroy the Red Blood Cells that hold the molecules This produces a lifethreatenin g disease that has only come under some control by modern medicine in the last few decades POTNT M UTAYTDN P01nt Normal Hemoglobm Sicklmg Hemoglobin Mutatlon DNA sequence Am am Ammo am DNA sequence 1 M T T G 4 twveo39wvs 4 threomne 5 A A G r G G a meme 5 pvohne G A A C C T Gglmamic acid as valine A C C C c r n glutamic sud 07 glulamu 40d T C C l T T 3 Wm H lysine T T T 146 046 mesa was molllmnq mum sequences Principles of Inheritance How Traits are Transmitted within Chromosomes Chromosomes are the complex DNA and Protein units that carry the genetic code in all cells with nuclei 0 In sexually reproducing organisms chromosomes come in homologous pairs 7 Each member of the pair contains information Families on how to build the same protein products 7 One member of each pair comes from the mother and one comes from the father Human Karyotype Karyotype 0 A Karyotype is a photomicrograph of the chromosomal complement of an individual 0 The chromosomes are arranged according to size and numbered with the first pair being the largest chromosomes and the twenty second pair being the smallest in humans except for the Y maledetermining chromosome ii II II u i E ii ii i YIIII m n 22 Human Genome Humans have 23 pairs of chromosomes 7 22 pairs of autosomal chromosomes affecting almost all aspects of the individual other than sex 7 1 set of sex chromosomes I A pair ofX chromosomes for Females I One X and one Y chromosome for Males 0 Approximately 30000 genetic loci on the 23 pairs of chromosomes Locus The position of a gene on an homologous chromosome pair is known as a m 7 The locus of the beta gene for the Hemoglobin molecule is near the tip of the short arm of chromosome number 11 7 The locus of the alpha gene is near the tip of the short arm of chromosome number 16 Alleles Genotype vs Phenotype Genotype is the genetic makeup of an Many genes have different forms individual We discussed two forms of the gene for 7 This usuallyrefers to what alleles an individual Hemoglobin the normal form called type has at a Spem c locus A and the mutant variety that results in eg at the ABO locus one A allele one 0 allele Sickle cell type S Phenotype is the observable expression of Th t f n 1 the genotype ese vanan S O a pa lcu H gene are 7 The phenotype for the above genotype would called Alleles be Blood Type A Homozygous Heterozygous If an individual has two of the same alleles at a particular locus he is said to be particular locus he is said to be W0 15 a W heterozygous or is a heterozygote 7 A person is homozygous if he inherits a 7 A person is heterozygous if he inherits a Hemoglobin S allele from both his mother and Hemoglobin 3 allele from his mother and a father Hemoglobin A allele from his father 7 Genotype Hbs HbA 7 Phenotype Sickle Cell Trait Carrier If an individual has two different alleles at a 7 Genotype Hbs HbS 7 Phenotype Sickle Cell Anemia Dominant and Recessive Alleles are said to be dominant or recessive depending upon whether they are expressed dominant or hidden recessive in heterozygotes 7 In the ABO system A and B alleles are 7 7 dominant over 0 and co dominant with each l other Blood type AB Blitzwest 7 O is recessive to both A and B Blood Type A 3out of 475 Independent Assortment The ABO locus is on chromosome 9 the Rhesus Rh locus in on chromosome 1 These two factors are transmitted independent of one another 7 Phenotype Blood type A 7 Genotype AO 7 Gametes N A O O in equal numbers Genetic Linkage If two different genes have loci on the same homologous chromosome pair they are said to be Linked 7 The locus for insulin and the locus for tissue compatibility affects transplant rejections are both found on the sixth chromosome pair in man 7 These two genes are linked Father Father Father Father GAMETES A Mother A iAA Mother A A AA Mother O AO Mother 0 AO Vanuuela HD Famlly Autosomal Dominant Huntington s Disease Autosomal Recessive Phenylketonuria Female Male L 3 Normal a PKU El Deceased SexLinked Recessive Hemophilia A I Herupturn Mule Fig 76 Sibling females IV3 and 74 with hemoph ia Note that I393 and lquot4 are rhi Itlren of double rsl t hllBinS This would nut in uence llw m39currencc of tho liaorder in males but can he a factur increaslng ita likelihood in Females as will lw discussed further in Chapter 0 From l nla arul Svujitka 1958 Courtesy of V r nla and l m ia H enmmlngim l vipzig
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