Human Origin Mid Term

Primate

Member of the mammalian order: they typically have flexible limbs, forward-facing eyes, and large brains.

Primates include: prosimians, monkeys, apes, and humans,

defined by a suite of anamotical and behavioral traits.

Evolution

A change in the frequency of a gene or a trait in a population over

multiple generations

Biological Anthropology

The study of humans as biological organisms, considered in an evolutionary framework, sometimes called physical anthropology.

Hominin

A member of the primate family Hominidae distinguished by bipedal posture and in more recently evolved species a large brain.

adaptation

A trait that increases the reproductive success of an organism, produced by natural selection in the context of a particular environment.

Anthropology

The study of humankind in a cross-cultured context. Anthropology includes the subfields cultural anthropology, linguistic anthropology, archaeology, and biological anthropology

Culture

The sum total of learned traditions, values, and beliefs

that groups of people (and a few species of highly intelligent

animals) possess.

Bicultural Anthropology

The study of the interaction between biology and culture.

which plays a role in most human traits

Structural genes

genes that contain the information to make a protien

regulatory genes

genes that guide the expression of structural genes, without coding for a protein themselves

genotype

the genetic makeup of an individual. it can refer to the entire genetic complement or more narrowly to the allels present at a specific locus on two homologous chromosomes (gg, Gg, GG)

phenotype

observable or measurable feature of an organism it can be anatomical, biochemical, or behavioral (narrow beak vs thick beak)

ABO blood type system

refers to the genetic system for one of the proteins found on the surface of red blood cells. Consists of one gene with three alleles; A, B, and O

recessive

in a diploid organism, refers to an allele that must be present in two copies (homozygous) in order to be expressed.

dominant

in a diploid organsim, an allele that is expressed when present on only one pair of a homologous chromosomes

codominant

in a diploid organism, two different alleles of a gene that are both expressed in a heterozygous individual

Particulate inheritance

the concept of heredity based on the transmission of genes (alleles) according to mendelian principles.

mendels law of segregation

the two alleles of a gene found on each of a pair of chromosomes segregate independently of one another into sex cells.

Mendels postulates

1. hereditary characteristics are controlled by particulate unit factors that exist in pairs in individual organisms

2. when an individual has two different unit factors responsible for a characteristic, only one is expressed and is said to be dominant to the other, which is said to be recessive

3. During the formation of gametes, the paired unit factors separate, or segregate, randomly so that each sex cell receives one or the other with equal likelihood

4. during gamete formation, segregating airs of unit factors assort independently of each other

Linkage

Genes that are found on the same chromosome are said to be linked. The closer together two genes are on a chromosome, the greater the linkage and the less likely they are to be separated during crossing over.

Point mutation

a change in the base sequence of a gene that results from the change of a single base to a different base

sickle cell disease

an autosomal recessive disease caused by a point mutation is an allele that codes for one of the polypeptide chains of the hemoglobin protein

mutation

an error that occurs in the replication of DNA that becomes established in a daughter cell

insertation mutation

a change in the base sequence of a gene that results from the addition of one or more base pairs in the DNA

deletion mutation

a change in the base sequence of a gene that results from the loss of one or more of base pairs in the DNA

trinucleotide repeat diseases

a family of autosomal dominant diseases that is caused by the insertion of multiple copies of a 3 base pair sequence that codes for the amino acid glutamine. Typically, the more copies inserted into the gene, the more serious the disease.

Autosomal dominant disease

a disease that is caused by a dominant allele: only one copy needs to be inherited from either parent for the disease to develop.

ex. achondroplasia (dwarfism)

huntington disease

a trinucleotide repeat disease which ties to a degenerative neurological disorder. It is located on chromosome 4., CAG. usually strikes people in the middle years.

williams syndorme

disease caused by a deletion mutation: results from the deletion of twenty-eight genes (but can vary) from one region of chromosome 7. (elfin appearance, cardiac issues, upturned nose, wide mouth, small chin, prone to cardiac issues and other organ systems, reduction in size of many brain regions.)

Neutral mutations

mutations that occur in noncoding regions because they make no contribution to the phenotype.

bad mutations

1. point mutation changes amino acid in active site of the protein —> reduction in the proteins ability to function, causing mild reduction in fitness

2. Insertion mutation that causes shift in the reading frame and changes several amino acids in a protien —> if the protein is essential, could be a lethal mutation incompatible with life

Neutral Mutations

1. point mutation that results in codon that codes for the original amino acid —> no change in protein structure or function

2. Point mutation changes amino acid but outside the active site of the protein —> no change in protein function

good mutations

1. point mutation changes amino acid in active site of the protein —> increase in the proteins ability to function, causing mild increase in fitness

2. Mutation in regulatory gene that greatly increases production of an enzyme —> enhances fitness and quickly spreads throughout the population

x-linked disorders

genetic conditions that result from mutations to genes on the x chromosome. they are almost always expressed in males who have only one copy of the x chromosome, in females, the second x chromosome containing the normally functioning allele protects them from developing x-linked disorders (more common in males than females) ex. (hemophilia, color-blindness, and congenital deafness.

sex chromosomes for male

XY (heterogametic)

sex chromosome for female

XX (homogametic)

cystic fibrosis

causes abnormal mucuous secretions, which affect several organs, especially in the respiratory system. In European and European-derived populations has a frequency of about 50/100,000 births

Sickle cell disease

abnormal hemoglobin molecule causes sickling of red blood cells, impairing oxygen transport in the body. particularly common in some African populations

Tay-Sachs disease

Most common in European jews, caused by an abnormal form of an enzyme that breaks down a fatty substance known as ganglioside GM2. When this substance builds up, it is toxic to nerve cells, and death usually occurs before 5 years of age.

Phenyiketonuria (PKU)

Defects in the enzyme phenylalaniine hydroxylase cause a buildup of the aminco acid phenylalanine, which results in mental retardation and physical abnormalities if phenylalanine is not removed from the diet.

Neurofibromatosis type 1

causes the growth of noncancerous tumors along nerves called neurofibromas, usually in the skin but also in the brain and other parts of the body. Causes mental retardation in about 10% of cases, and about half of afflicted individuals have learning disabiliites.

Myotonic dystrophy

most common form of muscular dystrophy in adults. causes a progressive wasting of the muscles, particularly in the lower legs, hands, neck, and face

fragile x syndrome

causes mild to severe mental retardation. result of the insertation of hundreds of copies of the triplet CGG into a gene on the x chromosome (normal is about 40 repeats)

Lesch-Nyhan syndrome

caused by the overproduction of uric acid, leading to the development of gout like joint problems, kidney and bladder stones, and involuntary flexing and jerking movements. Self-injury through biting and head banging is common.

qualitative variation

pheotypic variation that can be characterized as belonging to discrete, observable categories (ex. albinism)

quantitative variation

phenotypic variation that is characterized by the distribution of continuous variation (expressed using a numerical measure) within a population (for example, in a bell curve)

Polygenic traits

phenotypic traits that result from the combined action of more than one gene; most complex traits are polygenic (timing of puberty, skin color, and eye color)

pleiotropy

the phenomenon of a single gene having multiple phenotypic effects (ex. the allele of the gene that causes achondroplasia

Heritability

the proportion of total phenotypic variability observed for a given trait that can be ascribed to genetic factors. It can range from 0 to 1

Eugenics movement

a discredited social and pseudoscientific ideology that sought to "improve" the human species through selective breeding and genetic control

heritability formula

heritability = variability caused by genetics/variability caused by genetics + variability caused by the environment

explain the genetic connection between phenotype and genotype discovered by gregor mendel in the nineteen century

1. the phenotype of an organism is the product of its genotype, and to a greater or lesser extent, the enviornment in which it developed and grew

2. Differences in both regulatory and structural genes contribute to the development of unique species characteristics

Apply mendelian genetics to modern concepts of inheritance and show how genes contribute to the expression of specifiic phenotypes

1. between 1856 and 1868, gregor mendel conducted ground breaking genetic research on the common garden pea

2. Mendels laws of segregation and independent assortment help describe the particulate nature of inheritance

review the various types of possible mutations and discuss both their possible benefits and negative consequences

1. there are several kinds of mutations, including point mutations, deletion mutations, and insertion mutations

2. mutations can be detrimental to the firness of an organism or they can enhance it, but many mutations are neutral because they do not lead to a change in protein structure or function

3. Many clinical diseases are classified as mendelian, meaning that their transmission follows a classical mendelian pattern

describe new discoveries in genetics and how polygenic traits interact with the environment to produce complex phenotypes

1. polygenic traits, the phenotype, and the environment

   1. most biological traits cannot be studied with mendelian genetics

   2. many traits are polygenic - the combined result of more than one gene, each of which may have more than one allele

   3. many genes are pleiotropic - they have multiple effects, on their own and in their interaction with other genes

   4. continuous quantitative variation for a trait is typically seen for polygenic traits

2. Heritability and IQ test score performance

   1. heritability: statistically geneticists use to quanitfy the proportion of variation observed for a trait that can be attributed to genetic rather than environmental factors

   2. IQ: while heritability may indicare a genetic component in its distribution, the heritability value itself may vary among populations according to environmental conditions

Discuss phenylketonuria (PKU) as an example of both Mendelian genetics and post-Mendelian genetics

PKU is a disease whose genetics, diagnosis, and treatment serve to illustrate a host of concepts relating to the complex interaction between genotype and phenotype.

directional selection

natural selection th

Cultural anthropology

the study of human societies in a cross-cultural perspective.The amazing variety of ways in which people lead their daily lives is at the heart of the field.

enthology

-subfield of cultural anthropology

-the study of human societies and the behavior of the people in it

ethnography

-the describing of culture

-ex. how parents in Boston care for their children relative to parenting among the sherpas of highland nepal

linguistic athropology

-the study of the form, function, and social context of language

anthropology

-the study of how people used to live

biological anthropology

relates to the study of human speciies directly or indirectly

paleoanthropology

the study of the fossil record of ancestral humans and their primate kin

osteology

the study of the skeleton

paleopathology

the study of disease in ancestral human populations

bioarchaeology

the study of human remains in an archaeological context

forensic anthropology

the study of human remains applied to a legal context

primatology

the study of the nonhuman primates and their anatomy, genetic, behavior, and ecology

human biology

subfield of biological anthropology dealing with human growth and development, adaptation to environmental extremes, and human genetics

physical anthropology

the study of humans as biological organisms, considered in an evolutionary framework

identify the subfields of anthropology and explain their applications to the study of human species

-anthropology is the study of humankind in a cross-cultural perspective.

-anthropologists study cultures in far-flung places, and they also study subcultures in our own society

-anthropology has four subfields

explain the subfields of biological anthropology and discuss how they try to answer key questions about the human species

-biological anthropology is one the anthropology’s four subfields, along with archaeology, culutral anthropology, and linguistic anthropology

-it is the study of humans as biological creatures: where we came from, our evolution, and how our biology interacts with our culture today

review the development of biological anthropology in the US, including its change in focus over time

-evolution by natural selection is the princple by which biological anthropologists understand the place of humans in the natural world

-biological anthropology seeks to answer a few baic questions: what does it mean to be human? how did we become who we are today? how does our biological past influence our lives in the environment of the present? what is the place of human beings in nature?

deduction

a conclusion that follows logically from a set of observations

observation

the gathering of scientific information by watching a phenomenon

hypothesis

a preliminary explanation of a phenomenon. Hypothesis formation is the first step of the scientific method.

experimentation

the testing of a hypothesis

data

the scientific evidence produced by an experiment or by observation, from which scientific conclusions are made

scientific method

standard scientific research procedure in which a hypothesis is stated, data are collected to test it, and the hypothesis is either supported or refuted

falsifiable

able to shown to be false

paradigm

a conceptual framework useful for understanding a body of evidence

immutability

stasis, lack of change

taxonomy

the science of biological classification

binomial nomenclature

linnean naming system for all organisms, consisting of a genus and species label

taxon

a group of organisms assigned to a particular category

catastrophism

theory that there have been multiple creations interspersed by great natural disasters such as noahs flood.

theory of inheritance of acquired characteristics

discredited theory of evolutionary change proposing that changes that occur during the lifetime of an individual, through use or disuse, can be passed on to the next generation

uniformitarianism

theory that the same gradual geological process we observe today was operating in the past.

biogeography

the distribution of animals and plants on Earth

adaptive radiation

the diversification of one founding species into multiple species and niches

natural selection

differential reproductive success over multiple generations

fitness

reproductive success

population

an interbreeding group of organisms

mutation

an alteration in the DNA that may or may not alter the function of a cell. If it occurs in a gamete, it may be passed from one generation to the next.

creation science

a creationist attempt to refute the evidence of evolution

intelligent design

a creationist school of though that proposes that natural selection cannot account for the diversity and complexity of form and function seen in nature

explain how science differs from other ways of understanding the world

-science is a progressive, self correcting, evidence-based way of understanding the world.

-faiths evidence is the bible, and it is impervious to evidence and hypothesis testing

explain the contributions of earliest scholars before Darwin to the development of evolutionary theory

carol von Linnaeus revolutionized the study of living things by classifying the according to similarities in form.

identify the contributions of the thinkers just before darwin’s time and how they helped him formulate his ideas

-many pre-darwinian thinkers accepted evolution and put forward theories for the mechanism

-Darwin was influenced by three eminent French natural historians: Comte de Buggon, Georges Cuvier, and Geoggroy Saint Hilaire

-proposed that the use of a trait could influence an offspring’s phenotype in the next generation. Darwin showed that change could occur across genera-tions based only on the selective retention of some traits and the filtering out of others.