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Human Biological Variation
Key terms from UC Davis' ANT 153
368
Anthropology
Undergraduate 3
11/04/2013

Additional Anthropology Flashcards

 


 

Cards

Term
Discrete
Definition
present or absent
Term
Continuous
Definition
shades of intensity/grey
Term
anthroposcopic
Definition
Term
anthropometric
Definition
Term
empiricism
Definition
Term
rationalism
Definition
Term
unilineal evolution
Definition
There are systematic changes with which society changes over time (& it's natural).
Term
John Locke
Definition
- all men are created equal
- the mind is an empty cabinet
Term
great chain of being
Definition
Term
Lewis Henry Morgan
Definition
unilineal evolution, came up with idea of savagery>barbarism>civilization
Term
savagery>barbarism>civilization
Definition
progressive change; stasis is not normal & tese terms can apply to society, politics, psychology, etc
Term
Carolus Linneaus (Carl von Linne)
Definition
Created Taxonomy and grouping with 4 human races:
1. White
2. asianic
3. european
4. negro
Term
Edward Tyson
Definition
Term
Petrus Campers
Definition
Anatomist that identified the "bone of contention" that separates man from other apes: premaxilary bone
Term
Johann Wolfgang Goethe
Definition
Term
racial (biological) determinism
Definition
personality is caused by the same thing that physiological traits are (polygenesis)
Term
monogenesis/polygenesis
Definition
creations: A single creation vs many creations
Term
environmental determinism
Definition
Nurture vs. nature (climat & weather); personality is caused by your living situations & conditions (monogenesis)
Term
Comte de Buffon (George Louis le Clerc)
Definition
-Naturalist
-Environmental determinist
- first to use race in regards to humans
-contemporary of lineus
- only agree with taxonomy's species - thought other classifications implied evolution
Term
John Hunter
Definition
Term
George Cuvier
Definition
Catastrophism enthusiast
Term
Catastrophism
Definition
The idea that there have been many catastrophes that have wiped out species
Term
Rev Samuel Stanhope Smith
Definition
Thought that black skin was merely a giant freckle gone haywire
Term
bile
Definition
Term
Johann Frederick Blumenbach
Definition
-Father of Biological Anthropology
- Not a biological determinist
-Paleoanthropologist
-Introduced caucosoid
-rejected racial determinism
- thought cranium was the best thing to use to measure traits
Term
Caucasoid/Mongoloid
Definition
Term
Immanuel Kant (Bergmanns Rule)
Definition
Adaptation of the body size based on environment
Term
Jean-Baptiste de Monet de Lamarck
Definition
-Inheritance of acquired characteristics (giraffe example)
-didn't use personalities to identify races
- recognized overlaps in morphological traits from racial groups; wasn't "real"
Term
inheritance of acquired characteristics
Definition
like the giraffe thing
Term
Voltaire (Francois Marie Arouet)
Definition
-poet/philosopher
- civil activist (civil rights, freedom of speech/religion)
- Ended up living in bastille; convinced french that exile was worth than death so they sent him to England
-Supportive of Sir Isaac Newton
- believed in separate creations
- difference in states due to intelligence rates (jews vs christians, whites vs africans)
Term
David Hume
Definition
-Thought there were no civilizations made by non-whites
- Scottish
- Difference in states due to intelligence rates (jews vs christians, whites vs africans)
Term
Edward Long
Definition
- Plantation owner in Jamaica
- Believed that Europeans and Africans were different species, not different races
- His views were used as a way to support slavery in the south
Term
Charles White
Definition
- Social activist who favored natural birthing
- gradations - thought africans were closer to whites than apes but had smaller brains
Term
Louis Agassiz
Definition
Term
Anders Retzius
Definition
- Swedish
- invented a way to measure systematic differences of people: Cephalic index
Term
cephalic index
Definition
measurement of breadth of cranium: (breadth/length) x 100
Term
dolichocephaly/mesocephaly/brachycephaly
Definition
dolichocephaly - broad (sweeds)
mesocephaly - in between
brachycephaly - narrow ( fins)
Term
typological thinking
Definition
exrapolating reasons for certain differences in two or more groups and using assumptions from anthropomorphic measurements; totally ignores that correlation does not prove causation
Term
Franz Joseph Gall
Definition
Term
Johann Kaspar Spurzheim
Definition
-Renamed "cranioscopy" o r "phrenology"
- Moved to US and met charles Caldwel @ Transylvania college (Lexington, KY) (Caldwel made phrenology a basis for medical teaching).
Term
craniology
Definition
Term
Charles Caldwell
Definition
Term
John Warren
Definition
Term
Paul Broca
Definition
- Leader of French Anthropology
- French Neurosurgen
- Believed in different types ofspecialism; different areas of the brain
- Had the Broca's area in brain named after him, which is the center of speech
- different racial groups have different abilities
- studied hybridization, not sterile but semi-sterile
Term
phrenology
Definition
new term for craniology as termed by Spurzheim
Term
Samuel George Morton
Definition
- Hopewell study
- Taught anatomy @ UPenn
-"founder" of american school of anthropology
- cautiously respectful of phrenology
- interested in cranial capacity; measured in mustard seeds
Term
Stephen J. Gould (The Mismeasure of Man)
Definition
- Restudied Morton's Hopewell study and books & pointed out biases, including inpropper representations in his data
Term
Sanitary Commission
Definition
- Created in 1860's
- in charge of monitoring health of union soldiers
- performed anthropomorphic measurements , mostly minorities
- one of the 1st attempts to collect data on this scale of this info
Term
Lambert Quetelet
Definition
- Belgian astronomer
- collected analytical data in the places where he had large groups of people as a captive audience
- interested in correlating normal vs. criminal types
- trained as a mathematician and statistician
- one of the first people to use statistics w/ demographics
Term
“the average male”
Definition
Quetelet tried to categorize this
Term
Cesare Lombroso
Definition
- heavily influenced by evolution
- Neanderthal genes correlated with criminal behavior
- came up with "born criminal" idea
- born criminal: measurements dictate criminal acivity
Term
“the born criminal”
Definition
5 inferior traits:
- receding forehead
- large ears
- square, projecting jaw
- broad cheekbones
- left handedness
Term
Charles Darwin
Definition
Term
Origin of Species
Definition
Charles Dawrin's book
Term
Thomas Malthas
Definition
- Clergyman
- founding father of demography
- studied population density
- without growth a population would become too big to survive - starvation
Term
Charles Lyell (uniformitarianism)
Definition
- Founding father of geography
- uniformitarianism: same thign that happens now has happened all the time
Term
natural selection
Definition
Term
survival of the fittest (fitness)
Definition
Term
sexual selection
Definition
Term
Thomas Huxley
Definition
Term
“missing link”
Definition
Term
Darwin’s dilemma
Definition
Term
gemmules (Pangenesis)
Definition
Term
Julian Huxley
Definition
Term
Gregor Mendel
Definition
solved darwin's 3rd dilema w/ incomplete dominance of evening primrose flowers
Term
particulate theory of inheritance
Definition
Term
laws of segregation and independent assortment
Definition
Term
pedigree analysis
Definition
Term
dominant/recessive inheritance
Definition
Term
Theodosius Dobzhansky
Definition
- UCD Professor
-induced mutations in fruit flies
Term
Eugenics (positive and negative)
Definition
Term
Francis Galton (normal distribution)
Definition
Term
Karl Pearson (correlation)
Definition
Term
Charles Davenport
Definition
Term
feeble mindedness
Definition
Term
Immigration Restriction Act of 1924
Definition
Term
Carrie Buck
Definition
Term
Alfred Binet
Definition
- feble mindedness
- created IQ test to help ID students in france that needed extra help in school
Term
IQ Test
Definition
Term
Henry Goddard
Definition
Term
Imbecile, Idiot, Moron
Definition
Term
Lewis Terman
Definition
Term
Stanford Binet IQ Test
Definition
Term
Robert Yerkes
Definition
Term
alpha and beta tests
Definition
Term
Franz Boas (“Report on Changes of the Bodily Form of
Definition
Term
Descendants of Immigrants”)
Definition
Term
Carlton Coon (The Origin of Races)
Definition
Term
Earnest Hooten
Definition
Term
Sherwood Washburn (the “New Physical Anthropology”)
Definition
Term
Microevolution
Definition
Term
Clines
Definition
Term
Karl Landsteiner
Definition
Term
ABO blood group polymorphism
Definition
Term
Hemaglutination
Definition
Term
Antigen, antibody
Definition
Term
electrophoresis
Definition
Term
segregation analysis
Definition
Term
autosomal recessive hypothesis
Definition
Term
sergregation parameter (segregation ratio)=q
Definition
Term
sibship size
Definition
Term
binomial expansion
Definition
Term
Pasqual’s triangle
Definition
Term
coefficients for terms of binomial expansion
Definition
Term
binomial probabilities
Definition
Term
chi-square test for goodness of fit
Definition
Term
expected value of r, the number of affected offspring in a
family of size s [ E(r) ]
Definition
Term
variance in r [ V (r) ]
Definition
Term
total number of “affected” offspring over all families (R)
Definition
Term
test of hypothesis that Σ [E(r)] = R
Definition
Term
ascertainment problem
Definition
Term
truncated selection model of autosomal recessive hypothesis
Definition
Term
Friedreich’s ataxia
Definition
Term
test of hypothesis that p=0.25
Definition
Term
population genetics
Definition
Term
Hardy-Weingerg equilibrium
Definition
Term
“Mendelian” population
Definition
Term
deme (breeding group)
Definition
Term
microevolution/macroevolution
Definition
Term
gene frequency
Definition
Term
genotype frequency
Definition
Term
gene pool
Definition
Term
selection
Definition
Term
mutation
Definition
Term
genetic drift
Definition
Term
gene flow (migration)
Definition
Term
law of joint probabilities
Definition
Term
Pr(A)=p, Pr(a)=q
Pr(AA)=p2, Pr(Aa)=2pq, Pr(aa)=q2
p2+2pq+ q2=1
Definition
Term
proof of H-W equilibrium (see handout in Smartsite
Resources)
Definition
Term
H-W assumptions
Definition
Term
Non-random mating
Definition
Term
MN blood group system (2 co-dominant alleles, M & N)
Definition
Term
Red blood cells (RBCs)
Definition
Term
antigen
Definition
Term
antibody
Definition
Term
agglutination
Definition
Term
absorption (to remove non-specific antibodies from M anti-serum absorb serum with type N RBCs)
Definition
Term
chi-square test for goodness of fit with n-1 degrees of
freedom (df)
Definition
Term
Rh-D gene
Definition
Term
null allele
Definition
Term
ABO blood group system
Definition
Term
Square root method of estimating frequencies of 3 alleles at
a locus
Definition
Term
Bernstein’s correction method
Definition
Term
Chi-square test for homogeneity with df=(r-1)(n-1)
Definition
Term
microevolution
Definition
Term
/macroevolution
Definition
Term
relative fitness (wi) _
Definition
Term
average fitness (w)
Definition
Term
selection coefficient (si=1-wi)
Definition
Term
directional selection
Definition
Term
complete selection
Definition
Term
n=q0-q1/q0q1 where n=number of generations required to change q0 to q1 under
complete selection against allele “a”
Definition
Term
balancing selection (heterozygote advantage)-at equilibrium pe=s3/s1+s3 and
qe=s1/s1+s3 _
Definition
Term
genetic load (segregational and mutational components)=1-w
Definition
Term
sickle cell anemia/falciparum malaria
Definition
Term
hemoglobin S (HbS) _
Definition
Term
rate of change in allele “a” under selection: Δq=pq[q(w3-w2)+p(w2-w1)]/w
Definition
Term
purifying selection/positive selection
Definition
Term
mutation rate (μ= average #mutations/gamete/genome/generation)
Definition
Term
Ernst Morch
Definition
Term
achrondroplasia
Definition
Term
Pn=P0(1-μ)n=P0e-nμ and μ=-ln (Pn/P0)/n
Definition
Term
reverse mutation rate (v)
Definition
Term
Δp=vq-μp: at equilibrium Δpe=0, hence, μpe=vqe and pe=v/μ+v and qe=μ/μ+v
Definition
Term
admixture/gene flow
Definition
Term
admixture from population #2 in a hybrid population=m2=qH-q1/q2-q1 where qH,
q1 and q2 are frequencies of an allele in the hybrid population and
populations at the origin and destination of the hybrid population,
respectively
Definition
Term
isolation by distance
Definition
Term
hybrid vigor (euheterosis vs luxuriance)
Definition
Term
Harry Shapiro
Definition
Term
random genetic drift (sampling effects): p1=p0 +/- δp = p0 +/- √(p0q0/2N)
Definition
Term
genetic subdivision
Definition
Term
Wahlund effect
Definition
Term
Bentley Glass
Definition
Term
founder effect
Definition
Term
serial founder effect
Definition
Term
genetic bottleneck
Definition
Term
positive/negative assortative mating
Definition
Term
consanguineous inbreeding coefficient: FX=Σ(1/2)n1+n2+1
Definition
Term
coefficient of relationship (kinship coefficient): fXY=Σ(1/2)n1+n2
Definition
Term
random inbreeding: ΔF=1/2N, Ft=1-[1-(1/2N)t] , and p12=p02+F0pq but p0=p1
Definition
Term
Dolichos biflorus
Definition
Term
Ulex europaeus
Definition
Term
Secretor status
Definition
Term
Pre/post zygotic selection
Definition
Term
Glycosyltransferase
Definition
Term
Fucose
Definition
Term
n-acetylgalactosimine
Definition
Term
galactose
Definition
Term
H antigen
Definition
Term
Bombay phenotype
Definition
Term
Yersinia pestis
Definition
Term
Molecular mimicry
Definition
Term
Diego antigen (Dia)
Definition
Term
Duffy (Fy) antigen or DARC (Duffy ntigen receptor for
Chemokines)
Definition
Term
Ruth Sanger
Definition
Term
Plasmodium vivax
Definition
Term
ancestry informative marker (AIM)
Definition
Term
electrophoresis
Definition
Term
non-synonymous/synonymous mutation
Definition
Term
haptoglobin
Definition
Term
hemoglobin S (HbS)
Definition
Term
Linnus Pauling
Definition
Term
glycolysis
Definition
Term
Plasmodium falciparum
Definition
Term
Glucose-6-phosphate dehydrogenase (G6PD)
Definition
Term
NADH diaphorase
Definition
Term
Thalassemia α and β
Definition
Term
acetylator polymorphism
Definition
Term
N-acetyl transferase
Definition
Term
phenylthiocarbamide (PTC)
Definition
Term
nodular goiter
Definition
Term
cerumen polymorphism (ABCCII gene)
Definition
Term
lactose tolerance
Definition
Term
Tools for DNA Analysis
Definition
1. PCA
2. RFLP
3. mtDNA
4. STRs
5. SNPs
6. Sanger sequences
Term
PCR ( Polymerase chain reaction)
Definition
Tools for DNA Analysis - The polymerase chain reaction (PCR) is a biochemical technology in molecular biology to amplify a single or a few copies of a piece of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence.
3. Primer sequences!
4. polymerase enzyme that activates transcription in the body, called TAC polymerase (comes from an organism discovered in the hot water pools in yosemite - hot hot hot!)
(Reaction run in thermocyclid)
Requires:. DNTPs
Requires: template DNA
1. Denature DNA to 94 C
2. Primer annealing (little over 50 C)
3. Transcription (temp up to 70 C)

you receive 2^n copies of DNA
Term
RFLP (restriction fragment length polymorphism)
Definition
Tools for DNA Analysis - a technique that exploits variations in homologous DNA sequences by using restriction enzymes to cut DNA fragments - a site where an enzyme has cut is called a RFLP
Term
mtDNA (mitochondrial DNA)
Definition
Tool for DNA Analysis - Used in genealogical studies, found in mitochondria (it has about 16.5 kilobase).

high mutation rate but is not under selection

resistant to decay because it comes in large quantities

circular

contains coding sequences for 37 genes that normally involve self replication of mitochondrial DNA.

No entrons in genes, only exons.

Different genetic code than nuclear genome - unique stop codon in humans UGA, in mtDNA this codes for tryptophan

different coding

control region 1200-1500 base paris- 10x more rapidly evolving (mtRNA usually is rap evolv; 10x faster than nuclear region) b/c it has no editing abilities and it is subject to the oxidative products of the RTC
Term
STRs
Definition
Tools for DNA Analysis -evolved through slippage, like hiccups -can be several nucleotides, like atatatatat or attattattatt, etch
Term
SNPs
Definition
Tools for DNA Analysis - single mutation polymorphisms - May exhibit homoplasy! Less informative than STRs
Term
Sanger sequencing method
Definition
Tools for DNA Analysis - didoxy method of sequencing, reamplifies sequence using just one primer and then another sequence using another primer, using a small portion of DNTP that has been modified so that it cannot accept another nucleotide- will stop adding to the chain. Using fluorescent dye makes the stops detectable, letting you electrophoretic ally separate them by size
Term
molecular anthropology
Definition
A field of anthropology in which molecular analysis is used to determine evolutionary links between ancient and modern human populations, as well as between contemporary species

Includes:
origins
ancestry
genetic differences

When were certain areas settled, etc?
When were migrations and what were the routes?
Discreet or continuous migrations? Back migration?
Demographic Changes? Selection patterns?
Term
outgroup
Definition
ancestral node from which two species decend
Term
relative rate test
Definition
using an outgroup to determine if the evolution rate of two species is the same:
AC=AO+OC
BC=BO+OC
if AO=BO then AC=BC & evolution is ocuring at a constant rate over time
Term
UPGMA (unweighted pair group method of averages)
Definition
appealing for it's simplicity & method of choice if there is a confirmed constant rate

1. connect a node with the most similar populations
2. both branches should be equal, so divide genetic distance by 2
3. add another branch for the next closest, taking the average and subtracting the first value from one of the branches, making the longer of the two branches the initial 1/2 value.
4. repeat until you're done!
Term
Purine
Definition
Adenine and guanine (3 hydrogen bonds)
Term
Pyrimidines
Definition
Cytosine, thymine, uracil
Term
Human Genome Project
Definition
Funded by national human genome research institute - started in 1990 & completed in 2003
Term
restriction enzymes
Definition
enzymes that are made by bacterial organisms as part of their immune system - designed to protect themselves against the attack of viruses, etc

They can recognize particular short sequences of DNA/nucleotides in a specific order & then makes 2 cuts in each half of the DNA
Term
Hind II
Definition
restriction enzyme that recognized sequence
GTCGAC
CAGCTG
and cuts it 1/2 way:
GTC | GAC
CAG | CTG
Term
high resolution restriction analysis
Definition
using a high volume of restriction enzymes
Term
haplotype
Definition
is a combination of alleles (DNA sequences) at adjacent locations (loci) on a chromosome that are inherited together
Term
haplogroups
Definition
comprises some number of similar haplotypes that share certain things in common
Term
Sanger sequencing
Definition
a method of sequencing the entire order of nucleotides in an amplified fragment using a di-deoxy method
Term
di-deoxy method
Definition
after amplifying a fragment, you re-amplify the fragment using two primers to
Term
dNTP (deoxyribonucleotide triphosphates)
Definition
(dNTPs) are critical components for molecular biology techniques such as PCR, sequencing, nick translation, and cDNA synthesis. Life Technologies offers a variety of dNTPs that can help you to achieve optimum PCR results.

All dNTP formulations are designed for convenience and flexibility. They are available in ready-to-use concentrations for a range of reaction volumes and applications.
Term
di-deoxy dNTP
Definition
once one is added to chain of nucleotides being added to, it does no allow any more nucleotides to be added
Term
L sub 1
Definition
earliest still surviving haplogroup whic diverged into groups Lsub2 and Lsub3 (Lsub3 then diverged into Lsub3a)
Term
Lsub3a
Definition
haplogroup from the original migrants from africa to southeast asia

diversified into subsets: M and N

Native america was the testing ground for testing this data
Term
microsatellite (STRs; short tandem repeats)
Definition
identified in 1961, named after sputnik

subset of a much larger group of repeat segments in DNA called VNTRs

gradually grow in size and then gradually reduce in size randomly

~20,000-30,000 in human genome
Term
transposable elements (retro-transposons)
Definition
Term
long (LINES) interspersed nuclear elements
Definition
comprise of 21 % of entire genome (~.5million in human genome)
Term
segmental duplications
Definition
Term
numts
Definition
Term
variable number of tandem repeats (VNTRS)
Definition
Term
satellite, microsatellite, macrosatellite
Definition
Term
pseudo-autosomal regions (PAR1 and PAR2)
Definition
Term
single nucleotide polymorphisms (SNPs)
Definition
A single substitution in a DNA sequence

estimated to be several tens of thousands in the human genome & they can be found about every several hundred base pairs(~10million in the human genome)

less prone to mutation than STRs
Term
portion of Y chromosome that is non-recombining
Definition
used to track males from certain times and spaces (precursor haplotypes of males), often used in studying native american migration patterns

few restriction sights
Term
Homologous chromosomes
Definition
pairs of chromosomes which contain a paternal and maternal copy
Term
dinucleotide repeat
Definition
ATATATATATAT
allele #1 is ATATAT
allele #2 is ATATATAT
Allele #3 is ATATATATAT
Term
motif
Definition
number of repeats (mono, di, tri, tetranucleotide repeats)
Term
homoplasy
Definition
the same in state but not in ancestry

such as STRs, which have high mutation rate but often get lazy/hickup and end up adding or subtracting alleles:

5--> 4
3--> 4
Term
homoplasy
Definition
Term
transitions
Definition
when a structurally similar nucleotide is replaced with another nucleotide of roughly the same shape
C<-->T
G<-->A
Term
transversions
Definition
when a nucleotide is replaced with another nucleotide of a different shape

C-->A
G-->T
Term
site specific primers
Definition
amplify only if a particular nucleotide is present at a site
Term
Human Genome
Definition
constructed of 3 billion base pairs
32k genes that represent our exome (less than ~1.5% of entire genome)
Term
Exons
Definition
transcribed
Term
intronic sequences
Definition
introns that are spliced out of messenger RNA and excluded in coding sequences, much larger than exons (3500 base pairs)
Term
gene
Definition
can be 2.7megabase(2.7 million)
Term
GTAG
Definition
sequences at the end of exons that identify the location of splicing

mutations in these sights can do something but i have no idea because Katie made me lose my train of though
Term
repeat sequences
Definition
Term
L1 nuclear element
Definition
LINES that has a GGACTT snip code, super abundant in human genome - found in AT rich areas
Term
short (SINES) interspersed nuclear elements
Definition
13% of human genome
Term
alu elements
Definition
found in GC rich regions of genome - uses alu 1 restriction enzyme to find alu elements

jumping elements that indicate the ancestral state of an organism b/c there is no other alu element in any other time in that location

found in tree shrews, rabbits, & closely related animals
Term
alu enzyme
Definition
cuts alu element into 120 and 170 pair elements
Term
ancestral state
Definition
absense and then appearance
Term
multifactorial (polygenic) inheritance
Definition
depends on more than one gene, can also be influenced by the environment
Term
Charles Davenport (Race Crossing in Jamaica)
Definition
Leader of Eugenics movement in America
argued that people with the lightest color skin were homozygous for aa allele, while dark skinned colors were AA for pigment conferring alleles
Term
additive effect
Definition
all alleles have equal additive effects on
Term
directional selection
Definition
systematic change in the average phenotype over time - usually the result of a sudden environmental change - a pivotal point for Darwin's theories

example: relaxation of selection pressure of colorblindness
Term
stabilizing selection
Definition
a gradual reduction in phenotypic variance - extreme phenotypes become less prominant

example: selection among average sized children at birth
Term
disruptive (diversifying) selection
Definition
where there is a tendency towards speciation in phenotypes x and y usually due to a change in environment - can lead to to total speciation (two humpz)
Term
melanocyte, melanosome
Definition
cells that produce a pigment granule called melanin

~1000 in mm^2 of skin
Term
keratinocytes
Definition
the predominant cell type in the epidermis, the outermost layer of the skin, constituting 90% of the cells found there
Term
eumelanin
Definition
(black pigment)
Term
phaeomelanin
Definition
(red pigment)
Term
facultative/constitutive
Definition
Term
phenalalinine
Definition
Term
phenylalinine hydroxylase
Definition
converts phenylalanine to tyrosine
Term
tyrosinase
Definition
the gene that codes for this is located on the Q arm of Chromosome 11

converts tyrosine-->DOPA-->dopaquinine-->2 types of melanin

VERY DEPENDANT ON pH LEVEL
Term
glutathione (GSH)- inhibits tyrosinase activity, but converted to oxidized glutathione (reducing inhibitory effect of GSH) by UV light
Definition
Term
Gloger’s Rule
Definition
the darkest pigmented populations of all mammalian species tend to live closer to equatorial areas
Term
Rickets (osteomalacia in children)
Definition
(osteomalacia in children) caused by inadequate calcium in bones
Term
skin cancer hypothesis
Definition
you have skin pigment to prevent skin cancer

ex: white australians get skin cancer at a ratio of 200 per 1000

doesn't provide evidence of why purifying selection wouldn't have eliminated light skin colors

ex: albinos tat live in Africa typically develop skin cancer in their 20s
Term
Peter Post
Definition
proposed cold injury hypothesis
Term
melanoma
Definition
skin cancer cells, often cloned & frozen for experiements - noted that the most highly pigmented melanoma cells exhibit a loss of melanin content over time while those cells that were light pigmented do not suffer a decline in melanin content of the skin - done under freezing and refrigeration.
Term
nutrient photolysis hypothesis
Definition
developed in the late 70s by 2 physicians @ U Minnesota

Dark skin evolved in early humans to minimize the photolysis effect caused by light interacting with Folic Acid
Term
folic acid
Definition
a deficiency of this in pregnancy results in infant mortality, birth defects and infertility before hand

super light sensitive
Term
slc24A5
Definition
-non synonymous mutation
-100% mutation in europe, absent elsewhere
-predicted to be responsible for 30-40% of difference in skin color between europeans and africans
-also affects fish!
Term
melanocortin 1 receptor (MCR1R)-loss of function mutation caused red hair
Definition
Term
melanocyte stimulating hormone (MSH)
Definition
enhances eumelanin production
Term
Agouti-stimulasting hormone
Definition
-competes with MSH for binding to MCR1R and enhances phaeomelanin production
Term
slc45A2
Definition
gene who's roll has something to do with the transport and process of tyrosine
non synonymous mutation caused by single snip -
Term
OCA2
Definition
found on long arm of chromosome 15

many mutations in this gene lead to a form of albinism called occulotaneous albinism (depigments eyes and skin, not just eyes)
~80 different mutations on this locus that lead to albinism
-separate mutation that causes no synonymous replacement of histamine to argentine replacement
- highest occurrence in east asia
Term
stem cell factor (SCF)
Definition
encodes a articular cytocine that regulates distribution of melanocytes
~15-20% of color difference between Europe & africa
Term
HERC2
Definition
Term
t-statistic
Definition
t=(see notes)
the assumption that a distribution is normal; useful for comparing data about multifactorial traits

developed by William Gossett (worked for Guinness brewery)

was used to test the quality of different brews!
Term
Constitutive skin color
Definition
skin color as is influenced by the genes that cause skin color
Term
Facultative skin color
Definition
skin color as is influenced by different mechanisms that can enhance pigmentation usually in a temporary fashion -

Ex: such as the thickness of the corneum stratum (the thicker it is the more your skin looks grey)
Ex: tanning
Term
Tanning!
Definition
inhibits effect of UV light on the lower epidermis because the pigmentation blocks UV from reaching the lower level
Term
Bergmann’s Rule
Definition
Fatness/stockiness
Term
Allen’s Rule
Definition
Limb length
Term
Fourier’s Law
Definition
Allen and Bergman's- heat loss is dependent on surface area, difference in internal and external temps, and the thickness of the shell.
Term
biilliac bredth
Definition
Term
Thompson’s Rule
Definition
Term
cheek pads
Definition
Term
epicanthic eye folds
Definition
Term
probable mutation effect
Definition
Term
Carabelli’s cusp
Definition
Term
Shovel shaped incisors
Definition
Term
Supernumery roots
Definition
Term
Palatine torus
Definition
Term
Enamel extension, enamel pearls
Definition
Term
Sinodont
Definition
Term
Sundadont
Definition
Term
dermatoglyphics
Definition
popularized by Francis Galton
Term
tent (arch)
Definition
Term
loop (ulnar, radial)
Definition
radial points away from the midsagital plane of the body, ulnar points in
Term
whorl
Definition
Term
pattern intensity index
Definition
count of all triradi - one of the two major parameters for fingerprints that are under genetic control and can be compared among genetic populations
Term
total ridge count
Definition
average of the ridges from the axes to each of the triradi -
males - 145
females - 137
one of the two major parametersfor fingerprints that are under genetic control and can be compared amung genetic polulations
-polygenic trait
Term
areas with darkest skin color
Definition
tropical climates
Term
Vitamin D
Definition
converted from the steroid 7-hydrocholesteral by UV light -facilitates absorption of calcium from the gut
can lead to calcification of soft tissue (kidney stones)
Term
vitamin D hypothesis
Definition
argued that people have the appropriate level of skin pigmentation to assure just the right amount of penetration of UV radiation in the lower epidermis of the skin to produce just the right amount of vitamin D
Term
cold injury hypothesis aka post hypothesis
Definition
dark colored skin is more susceptible to cold injury than light colored skin - is it melanin that is responsible for this, or something else?
Term
Gall and kidney stones
Definition
caused by excess of calcium absorption from the gut
Term
freeze branding
Definition
branding an animal by freezing their skin
Term
guinea pig test
Definition
proved that dark colored skin gets damaged by cold more than light pigmented skin
Term
tyrosinase gene
Definition
eliminated by purifying selection everywhere but Europe -
responsible for 8% of skin color differentiation in human pop
Term
solute carrier fmily
Definition
slc45A2, slc45A5, etc
Term
molecular clock
Definition
based on generations
Term
Francis Galton
Definition
popularized fingerprints as differentiatingrea mechanisms (strongly genetically determinant)
Term
triradius
Definition
the triangular parts of fingertips where loops and other lines meet (and make triangles)
Term
aneuploidy
Definition
when a cell has an incorrect humber of chromosomes - caused by mistake in cell division -

good example is down syndrome, where there are 3 copies of chromosome 21 instead of 2!
-can make all prints ulnar loops on all digits (4% in normal population, 33% in down syndrome populations) or
- having radial loops on 4th fingertips (rare in most tests, almost full occurrence in down syndrome pops)
- having no loops and only tents on fingertips
-chromosomes 13, 14 and 15 are commonly associated with radial loops on the 4th and 5th digit (5th = pinky) (common for general pop to have radial loops but that's typically found on the index finger)
-x chromosome has been implicated in having an effect on patterns
Term
turner syndrome
Definition
XO sex genotype
165 average total ridge count (vs 145 (male), 127 (female), 114(XXY) and 17 (super females XXXXX))
Term
phenotypic variance (V subP)
Definition
= VsubG+ VsubE
Term
genetic variance (V subG)
Definition
Term
environmental variance (V subE)
Definition
Term
degree of genetic determination (H)
Definition
V subG/V subP
- bound between 0 and 1
(0 if Vmz is 1, 1 if Vmz is 0)
Term
Forbes Robertson
Definition
studied the thorax link of a fruit fly species with regards to phenotypic/genetic/environmental variance
V subP = ~14.4%
V subP when ~37%
SO: V subG = ~49%
Term
Monozygous (MZ) twins
Definition
individuals who share 100% of DNA
all variance is environmental
Term
Francis Galton
Definition
Term
Richard Oborne
Definition
co-wrote genetic basis of morphological variation with DeGeorge

Found a genetic link on many anthropometric characteristics by studying twins
Term
Francis DeGeorge
Definition
co-wrote genetic basis of morphological variation with Oborne

Found a genetic link on many anthropometric characteristics by studying twins
Term
Genetic Basis of Morphological Variation
Definition
Term
additive affect of genes (VsubA)
Definition
one subset of VsubG
Term
deviation from additivity (VsubD)
Definition
one subset of VsubG
-occurs when there are dominant and recessive genes on certain loci
Term
least square regression line (Yi=βXi +α)
Definition
minimizes distance between the observed data and the regression line used to summarize that data

x = value of phenotype for a certain individual, observed parent phenotype (dots!)
(α) = y-intercept
(β) = slope
Term
y-intercept (α)
Definition
point that a least square regression line crosses the y axis
Term
slope of regression line (β)
Definition
ratio of rise over run of a least square regression line
Term
α=(ΣY)(ΣX2)-(ΣX)(ΣXY)/NΣX2-(ΣX)2
Definition
Term
_ _
covXY=Σ(Xi-X)(Yi-Y)/N
Definition
covariance
Term
β=NΣXY-(ΣX)(ΣY)/N(ΣX2)-(ΣX)2 = covXY/(σ^2)X = h^2/2
Definition
Term
r=covXY/σXσY Note: if σX = σY , then r = β
Definition
Term
_
total variance = Σ(Yi-Y)^2
Definition
total variance
Term
∧ _
explained variance = Σ(Yi-Y)^2
Definition
explained variance
Term

unexplained variance = Σ(Yi-Yi)^2
Definition
unexplained variance
Term
_ ∧ _ ∧
Σ(Yi-Y)2 = Σ(Yi- Y)2 + Σ(Yi-Yi)2
Definition
Term
∧ _ _
r^2 = Σ(Yi- Y)2/ Σ(Yi- Y)2
Definition
Term
r√N-2/√1-r2 is distributed as a t statistic with N-2 degrees of freedom - if N>30,
and t > 1.65 or < -1.65, reject H0 that r = 0
Definition
Term
epistasis
Definition
interaction between different genes- even if two genes do not contribute to phenotypic variance, they may affect each other
Term
genetic X environment interaction
Definition
same as epistasis but it's phenotypes vs environmental interactions
Term
heritability in the broad sense
Definition
V subP = Σ(XsubL- mean of X)^2/ N = VsubG +VsubE
Term
dizygous (DZ) twins
Definition
individuals who share 50% of DNA
Term
Phenotypic Varance in twins
Definition
V subP in twins= Σ(Xi-Yi)^2/N = VsubpsubDZ - VsubpsubMZ / VsubpsubDZ = VsubG/VsubP = H
Term
h^2
Definition
heritability in the narrow sense, may = the genetic determination if traits are additive
Term
Diversifying selection
Definition
A pRticular species inhabits multiple environments and starts to act differently in the environment- leads to speciation! Yeah! It's the clinneeeeee!
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