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143 Cards in this Set

  • Front
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chromosomes that characterize one sex or the other in a wide range of species, resulting and there label as sex chromosomes. example XY pair in mammals.
heteromorphic chromosomes
7
In many species, genes rather than chromosomes ultimately serve as the underlying basis for....
Sex determination
7
Differences between males and females
Sexual Dimorphism
7.1
Involves only the gonads, where gametes are produced
Primary sexual differentiation
Chapter 7. 1
Involves the overall appearance of the organism, including clear differences and such organs as in mammary glands and external genitalia as well as non reproductive organs.
Secondary sexual differentiation
7.1
Individual containing only one male or only female reproductive organs.
Unisexual, dioecious, gonochoric
7.1
Individuals containing both male and female reproductive organs, a common currents in both plant and animal kingdoms. these organisms produce both eggs and sperm.
Bisexual, Monocious, hermaphroditic
7.1
individual of an intermediate sexual condition, most of whom are sterile
Intersex
7.1
To give me to fuse during mating are not usually morphologically distinguishable from one another
ISO gametes
7.1
Species that produced ISO gametes
Isogamous
7.1
Following fertilization, which involves fusion of entire cells , and subsequently, meiosis, produces...
Four haploid cells called zoospores
7.1
life cycle of chlamydomonas
7.1
life cycle of maize (Zea mays)
7.1
Females in this species produce only (6A + X) constitution, but males produce 2 types of gametes in equal proportions, 6A +X and 6A +Y
C elegans
7.2
in protenor and lygaeus insects, Mills produced unlike gametes. There gamis ultimately determine the sex of the progeny of the species.
Heterogametic sex
7.2
Producing uniform gametes with regard to chromosome numbers and types.
homogametic sex
7.2
ZZ / ZW
zz = male zw= females
7.2
Klinefelter's syndrome
47, XXY
7.3
Turner syndrome
45, X
7.3
Are similar phenotypically to 47, XXY, but manifestations are often more severe in individuals with a greater number of X chromosomes.
48, xxxy, 48, XXYY, 49 xxxxy, 49 xxx YY
7.3
That I'm normal presence of three X chromosomes along with a normal set of autosomes (47, xxx) results and female differentiation.
triplo-x
7.3
Studied in 1965 by Patricia Jacobs , studied 9 315 males in a Scottish maximum security prison with this karyotype. they were characterized by tall height antisocial criminal acts.
47, XYY
4.3
By the fifth week of gestation, gonadal primordia ( the tissue that will form the gonad ) rises a pair called........... Associated with each embryonic kidney
Gonadal (genital) ridges
7.3
Because gonadal ridges can form either ovaries or testes, as they are commonly referred to as...
Bipotential gonads
7.3
Current analysis of these genes and regions with potential genetic function reveals that some have homologous counterparts on the X chromosome and others do not. for example, present on both ends of the Y chromosome are so called........................ That share homology with regions on the X chromosome and synapse and recombine with it during meiosis
pseudoautosomal regions (PARs)
7.3
The remainder of the chromosome, about 95 percent of it, does not synapse or re- combine with the X chromosome. originally called and nonrecombining region of the Y.
Male specific region of the Y
7.3
Within euchromatin, adjacent to the PA R of the short arm of the Y chromosome, is a critical gene that controls male sexual development,
Sex determining region y
7.3
At 6 to 8 weeks of development, the sex determining region y gene becomes active and XY embryos. sry encodes a protein that causes the undifferentiated gonadal tissue of the embryo to form testes. this protein is called...
Testis determining factor
7.3
Animals produced from fertilized eggs injected with foreign DNA that is subsequently incorporated into genetic composition of the developing embryo.
Transgenic mice
7.3
TDF functions as a..., a DNA binding protein and interact directly with regulatory sequences of other genes to stimulate their expression.
Transcription factor
7.3
Another potential target for activation by TDF that has been extensively studied is the gene for.....
Mullerian inhibiting substance
7.3
Sequences of base pairs that Read the same but in the opposite direction of complementary strands --- are present throughout the MSY
Palindromes
7.3
Eat repeat unit is an.... And is contained within seven segments scattered across the euchromatic regions of both the short and long arms of the Y chromosome
Amplicon
7.3

Primary sex ratio

Reflects the proportion of males to females conceived in a population.

7.4

Secondary sex ratio

Reflects the proportion of each sex that is born. the secondary a sex ratio is much easier to determine but has the disadvantage of not accounting for any disproportionate embryotic or fetal mortality.

7.4

1. Because of segregation, males produce equal numbers of X & Y bearing sperm.



2. Each type of sperm has equivalent viability and motility in the female reproductive tract.



3. The egg surface is equally receptive to both X and Y bearing sperm

Assumptions of theoretical ratio

7.4

Balances the dose of X chromosome gene expression in males and females.

dosage compensation

7.5

An inactivated X chromosome

Barr body or sex chromatin body. For suggested by susumu ohno. If one of the two X chromosomes is an active in the cells of females, the dosage of genetic information that can be expressed in males and females will be equivalent.

7.5

Lyon hypothesis

Once an activation has occurred, all descendants cells have the same X chromosome and activated as their initial progenitor cell. this explanation , which has come to be called the ------ - -----, was initially based on observations of female mice heterozygous for an x-linked coat color gene

7.5

A culture of cells derived from a single cell is called a....

Clone

7.5

An excellent source of some disorder. and humans, hemizygous males are fully color blind and all retinal cells. however, heterozygous females display mosaic retinas, with patches of defective color perception and surrounding areas with normal color perception.

Red - green color blindness

7.5

A process where expression of genes on one Homolog, but not on the other, is affected.

Imprinting

7.5

This region, located at the proximal end of the P arm humans... a region of mammalian X chromasome is the major control

X inactivation center

7.5

Is now know to be critical for x inactivation

X inactivated specific transcript

7.5

Gene aren't officially introduced into an organism

Transgene

7.5

I'm the same general sex chromosome consumption as humans... males are XY and females are xx. However, the Y chromosome is not use for sex determination, it is only involved in fertilization. X chromosomes and autosomes together play a critical role in sex determination.

Drosophila

7.6

as a ratio exceeds unity, was once called is superfemale is produced. Because such females are most often enviable they are now more appropriately called...

Metafemales

7.6

They were invariably sterile an express both male and female morphology

Intersexes

7.6

thus, with respect to primary sex determination, male gametes containing 1 of each autosome plus a y chromosome result in male offspring not because of the presence of the y chromosome but because they fail to contribute to X chromosomes.

Genetic balance theory

7.6

Portions of the RNA are removed and the remaining fragments are spliced back together prior to translation into a protein

RNA splicing

7.6

RNA transcript maybe spliced in different ways

Alternative splicing

7.6

Since drosophila females contain two copies of X linked genes, whereas males contain only one copy, a dosage problem exists as it does in mammals such as humans and mice. however, the mechanism of dosage compensation in Drosophila differs considerably from that and mammals, since X chromosome inactivation is not observed. instead x-linked genes are transcribed at twice the level of the comparable genes in females.

Dosage compensation in Drosophila

7.6

This cluster of gene activating proteins. (Drosophila )

Dosage compensation complex

7.6

One half of its body the left half has developed as male and the other half has developed is female

Bilateral gynandromorph

7.6

Sex is determined genetically

Genotypic sex determination

7.7

Temperature determines the sex of an organism. prevalent in reptiles

Temperature dependent sex determination

7.7

An enzyme that converts androgens to estrogens

Aromatase

7.7

ZZ and ZW are found in some snakes and lizards other lizards use the xx/xy system.

Sex determination in reptiles

7.7

An organism gains or loses one or more chromosomes but not a complete set.

Aneuploidy

8.1

The loss of a single chromosome in an otherwise diploid genome... 2n-1

monosomy

8.1

The game of one chromosome. also termed euploidy. 2n + 1

Trisomy

8.1

More than two sets of chromosomes presents

Polyploidy

8.1

Organisms with three sets of chromosomes

Triploid

8.1

Organisms with four sets of chromosomes

Tetraploid

8.1

Paired homologs fail to disjoin during segregation

Nondisjunction

8.1

Monosomy unmasks recessive lethals that are otherwise tolerated and heterozygotes carrying the corresponding wild-type alleles. another possible cause of lethality of aneuploidy is that a single copy of a recessive gene may be insufficient to provide adequate function for sustaining the organism which is called...

Haploinsufficiency

8.2

the condition that results from trisomy of chromosome 21. Occurs through nondisjunction of chromosome 21 during meiosis failure of the paired homologs two disjoint during either anaphase 1 or 2 may lead to gametes with (n + 1) chromosome composition.

Down syndrome or trisomy 21

8.2

investigations have given rise to the idea that a critical region of chromosome 21 contains the genes that are dosage sensitive and this trisomy and responsible for the many phenotypes associated with the syndrome Down syndrome.

Down syndrome critical region

8.2

Fuel cells are obtained from the amniotic fluid or the chorion of the placenta, respectively.

Amniocentesis and chorionic villus sampling

Fetal cells and DNA are derived directly from the maternal circulation.

Non-invasive prenatal genetic diagnosis

8.2

Down syndrome occasionally ransom families, in this instance, involvement of a translocation of chromosome 21.

Familial Down syndrome

8.2

Trisomy in humans:


47, +13


47, +18


47, +21

Patau


Edwards


Down syndrome

8.2

The addition of one or more extra sets of chromosomes, identical to the normal haploid compliments of the same species

Auto polyploidy

8.3

The combination of chromosomes sets from different species occurring as a consequence of hybridization

Allo polyploidy

8.3

a failure of all chromosomes to segregate during meiotic divisions can produce a diploid gamete

Auto triploids

8.3

Unlike triploids, which often produced genetically unbalanced gametes with all the numbers of chromosomes, tetraploid are more likely to produce balanced gametes when involved and sexual reproduction.

Auto tetraploid

8.3

Since the polyploid contains the equivalent 4 haploid genome derived from separate species, such an organism is called a allotetraploid. When both original species are known, an equivalent term,

Amphidiploid

8.3

The condition in which only certain cells in an otherwise diploid organism are polyploid.

Endo polyploidy

Part of a chromosome in rearrangements of genetic material in which a chromosome segment is inverted, exchanged with a segment of nonhomologous chromosome, or merely transferred to another chromosome.

Translocations

8.4

When a chromosome breaks in one or more places in a portion of it is lost the missing pieces called...

Deletion

8.5

A deletion that occurs near one end of the chromosome

Terminal deletion

8.5

A deletion that occurs within the interior of the chromosome.

Intercalary deletion

8.5

for synapses to occur between a chromosome with a large intercalary deletion and a normal homolog, the unpaired region of the normal homolog must buckle out into a...

Deletion or compensation loop

8.5

Deletion of a small terminal portion of chromosome 5, resultin... it may be considered a case of partial monosomy, that since the region that is missing is so small, it is better referred to as A...

Cri du. Chat syndrome

8.5

Deletion of a small terminal portion of chromosome 5, resultin... it may be considered a case of partial monosomy, that since the region that is missing is so small, it is better referred to as A...

Segmental deletion

8.5

When any part of the genetic material - - - a single locus or a large piece of a chromosome --- is present more than once in the genome, its called a...

Duplication

8.6

The genes that code for rRNA are located in an area known as the

nucleolar organizer region

8.6

The presence of several genes in an organism's genome that all have variations of the same function. example, multiple copies of genes code for rRNA

Gene redundancy

8.6

The process by which gene sequences are selected and differentially replicated either extrachromosomal or intrachromosomal

Gene amplification

8.6

Group of contiguous genes whose products perform the same or similar functions

Gene families

8.6

When individuals in the same species are compared, the number of copies of any given duplicated sequence is found to vary --- sometimes there are larger and sometimes smaller numbers of copies. these variations, because they represent quantitative differences and the number of large DNA sequences, are termed....

Copy number variants

8.6

A type of chromosomal aberration in which a segment of a chromosome is turned around 180 degrees within a chromosome.

Inversion

8.7

If the centromere is not part of the rearranged chromosome segment it is...

paracentric inversion

8.7

If the centromere is part of the inverted segment, it is a...

Pericentric inversion

8.7

Organisms with one inverted chromosome and one noninverted homolog is a .... To such chromosomes in meiosis can be paired only if they form an inversion loop

Inversion heterozygote

8.7

In any meiotic tetrad, a single crossing over between non sister chromatids produces to parental chromatids and to recombinant chromatids. when the cross over occurs within a para centric inversion, however, 1 recombinant dicentric chromatids (2 centromeres) and one recombinant acentric chromatid (lacking a centromere) are produced

Meiotic tetrad

8.7

The movement of a chromosomal segment to a new location in the genome.

Translocation

8.8

The exchange of segments between two non homologous chromosomes

Reciprocal translocation

8.8

well most fragile sites do not appear to be associated with any clinical syndrome , individuals bearing a folate - sensitive site on the X chromosome exhibits the..... The most common form of inherited mental retardation

Fragile X syndrome

8.9

Characteristic of other human disorders, including Huntington's disease in myotonic dystrophy. The number increases and future generations, demonstrating the phenomenon known as genetic anticipation

Trinucleotide repeats

8.9

DNA contained in mitochondria or chloroplasts determines certain phenotypic characteristics of the offspring

Organelle heredity

9

A Symbiotic or parasitic association with a microorganism; in this case an inherited phenotype is affected by the presence of the microorganism in the cytoplasm of the host cells.

Infectious heredity

9

Nuclear gene products are stored in the egg and then transmitted through ooplasm to the offspring

maternal effect

9

The transmission of genetic information to the offspring through the cytoplasm then through the nucleus, most often from only one of the parents.

Extranuclear inheritance

9

If only 1 or a few of the organelles acquire a new mutation where contain an existing one in a cell with a population of mostly normal organelles, the corresponding mutant phenotype may not be revealed, since the organelles lacking the mutation perform the wild-type function for the cell. this such variation in the genetic content of organelles is called...

Heteroplasmy

9.1

A small proportion of these mutants are the result of nuclear mutations in genes whose products are transported 2 and function in mitochondria. They exhibit Mendelian inheritance. The remaining mutants demonstrate cytoplasmic transmission, indicating alterations in the DNA of the mitochondria. They produced one of two effects in mating.

Segregational petites

9.1

When crossed to wild-type, or normal, or colonies. the same pattern continues if the progeny of such crosses I'm back crossed to neutral petites Ferien the majority of neutral lack mtDNA completely or have lost a substantial portion of it, so for their offspring to be normal, the neutrals must also be inheriting mitochondria capable of Arabic respiration from the normal parents following reproduction.

neutral petites

9.1

Provides different results. cross between mutant and wild type give to diploid zygotes , which after meiosis, Yield haploid cells that all express the petite phenotype.



Assuming that the offspring have received mitochondria from both parents, the Petit cells behave as what is called a dominant negative mutation, which somehow expresses the function of the wild-type mitochondria.

Suppressive petites

9.1

The theory states that mitochondria and chloroplasts of rose independently about 2 billion years ago from free living Protobacteria (primitive bacteria). The idea proposes that these ancient bacteria like cells were engulfed by larger primitive eukaryotic cells, which originally lack the ability to respire Aerobically or to capture energy from sunlight.

Endosymbiotic theory

9.1

In order for the human mitochondria to be attributable to genetically altered mitochondria, several criteria must be met:


1. Inheritance must exhibit in maternal rather than a medalian pattern.


2. The disorder must reflect a deficiency and the bioenergetic function of the organelle.


3. there must be a mutation in one or more of the mitochondrial genes



Mitochondria caused human disorders

9.3

is an example of a mitochondrial disease . only the offspring of affected mothers inherited disorder; the offspring of affected fathers are normal. individuals with this rare disease express ataxia, deafness , dementia, and epileptic seizures.

Myoclonic epilepsy and ragged red fiber disease

9.3

Also exhibits maternal inheritance as well as mtDNA regions. The disease is characterized by sudden bilateral blindness the average age of vision loss is 27 call mom but onset is quite variable.

Leber's hereditary optic neuropathy

9.3

And the offspring phenotype for a particular trait is under the control of nuclear gene products present in the egg

maternal effect

9.4

Each replicated DNA molecule would consist of 1 old and one new strand

Semi conservative replication

11.1

Complimentary poly nucleotide chains are synthesized as described earlier. Following synthesis, however, the two newly created


strands then come together in the parental strand associates. original helix is conserved.

conservative replication

11.1

The parental strands are dispersed into two new double helix following replication. Hence, each strand consists of both old and new DNA . this mode would involve cleavage of the parental strands during replication.

Dispersive replication

11.1

They grew E coli cells for many generations in a medium that had 15 NH 4 Cl, ammonium chloride, as the only nitrogen source. a heavy isotope of nitrogen 15 n contains one more neutrons than the naturally occurring 14 N. After many generations in this medium almost all nitrogen containing molecules in the e.coli cells, including the nitrogenous bases of dna , contain the heavier isotope. They distinguished 15 N cells from 14 N cells by using sedimentation equilibrium centrifugation. Cells were then transferred to a medium containing 14 N. Only synthesis of DNA during replication contained only the lighter isotope of nitrogen. Cell samples were removed after each replication cycle. DNA was isolated from each sample and subjected to sedimentation equilibrium centrifugation. After one generation, isolated DNA was present in only a single band intermediate density - us - they expected result for semi conservative replication and which each replicated Molly kill was composed of one new 14 N strand and 15 N old strand.8

Meselson and Stahl experiment

11.1

They experimented with root tips of the broad bean Vicia faba which are an excellent source of dividing cells.

Meselson and Stahl semi conservative replication in eukaryotes

A common technique that, when applied cytologically, pinpoints the location of a radioisotope in a Cell.

autoradiography

11.1

The location or locations where replication begins



Prokaryotes have one origin of replication and eukaryotes have multiple , which are both bidirectional.

Origin of replication

11.1

First, and each point along the chromosome where replication is occurring, the strands of the helix are unwound, creating what is called a...

Replication fork

11.1

The length of DNA that is replicated falling 1 initiation event at a single origin.

Replicon

11.1

Kornberg determine that there were two major requirements for in vitro DNA synthesis under the direction of dna polymerase I: 1. All 4 deoxyribosenucleoside triphosphate and 2 template DNA


polymerase I:



1. All 4 deoxyribosenucleoside triphosphate and 2 template DNA



DNA polymerase 1 in vitro

11.2

Occurs in the 5 to 3 Prime direction find the addition of one nucleotide at a time to the growing three prime end.

Chain elongation

11.2

At least one enzyme other than DNA polymerase one is responsible for the replication of DNA in vivo.



DNA polymerase 1 serves as a secondary function in vivo, as is now believed to be critical to the maintenance of fidelity of DNA synthesis.

DNA polymerase 1

11.2

Is the enzyme responsible for the five prime to 3 prime polymerazation and in vivo replication. Its 3 prime to 5 prime exonuclease activity also provides a proofreading function that is activated when it inserts an incorrect nucleotide.

DNA polymerase 3

11.2

The active form of DNA polymerase 3, referred to as the....., is made up of unique polypeptide subunits, 10 of which have been identified.

Holo enzyme

11.2

A= 5' to 3' polymerazation


E= 3' to 5' exonuclease


O= core assembly

core enzyme

11.2

Pairs with the court enzymes and facilitates the function of a critical component of the holoenzyme, called the sliding DNA clamp.

Sliding clamp loader

11.2

Links to the core enzyme and is made up of multiple copies of the B sub unit, taking on the shape of a donut, where by it can open and shut, to encircle un replicated DNA helix.

Sliding DNA clamp

11.2

Binds to the newly formed applications fork, separating the two DNA strands.

Helicase

11.3

Once the helicase has opened up the helix, base pairing must be inhibited until it can serve as a template for synthesis. this is accomplished by proteins have been specifically to single strands of DNA called...

Single-stranded binding proteins

11.2

A tension is created ahead of the replication fork called supercoiling. an enzyme called ... Relieve the tension. Part of a large group of enzymes referred to as DNA topoisomerases

DNA gyrase

11.3

Synthesis of the RNA is directed by a form of RNA polymerase called. .... Which is recruited to the replication fork by DNA helicase, and which does not require a free 3 prime end to initiate synthesis

Primase

11.3

The strands that can serve as a template for continuous DNA synthesis

Leading strand

11.3

Discontinuous DNA synthesis.... requires Okazaki fragments,

Lagging strand

11.3

As we noted, DNA polymerase one removes the primers and replaces the missing nucleotides. Joining the fragments is the work of another enzyme, which is capable of catalyzing the formation of the phosphodiester bond that seals the neck between the discontinuous synthesized strands.

DNA ligase

11.3

Mutations that are expressed under one condition but not under another. Example is temperature sensitive mutation

Conditional mutations

11.5

Synthesize RNA primers on both the leading and lagging strands. After the RNA primer reaches a length of about 10 ribonucleotides, another subunit adds 10 to 20 complimentary deoxyribonucleotides.

Pol a enzyme

11.6

the assembly of new nucleosomes is carried out by...... That move along with the replication fork

Chromatin assembly factors

11.6

synthesis of dna using RNA as a template. Tert is a catalytic subunit of the telomerase enzyme.

Reverse transcription

11.7

Holiday structure

Non-reciprocal genetic exchange between 2 DNA molecules.

Gene conversion

11.8