3.3. Developmental, Quantitative, and Population Genetics Flashcards
understanding of developmental processes at the genetic level, such as (1) how genes mediate developmental events, and (2) how genes contribute to the continually changing phenotype of the newly formed organism
developmental genetics
attainment of a differentiated state by all the cells of an organism, except for stem cells, wherein a cell achieve its final form and function
development
how do cells shift from the undifferentiated to the differentiated state?
progressive activation of different gene sets in different cells of the embryo
true or false : development relies on precise and coordinated programs of gene expression. this ensures that different cell types can develop specialized function, forming the tissues and organs of the organism.
true
during development, certain genes are turned on or off in a controlled and timely manner. this precise regulation is what allows cells to become specialized and form different tissues and organs
describe variable gene activity hypothesis
suggests that differentiation is accomplished by activating and inactivating genes at different times in different cell types
differentiation is the process by which cells become specialized in their functions through activating/inactivating certain genes. this hypothesis explains how cells with the same genetic information can develop into diverse cell types with unique functions
assumptions of variable gene activity hypothesis
(1) each cell contains an entire genome
(2) differential transcription of selected genes controls the development and differentiation of each cell
each cell in an organism has the full set of genetic information. the process of transcription is regulated differently in each cell type. in each type of cell, specific genes are transcribed into RNA and then into proteins, while others are not. for example, imagine you have a library (the genome) with all the books (genes). every cell in your body has a copy of this entire library. however, in a muscle cell, only the books (genes) needed to make muscles are read (transcribed), and in a nerve cell, only the books needed to make nerve cells are read. the rest of the books are still there but are not used in that particular cell type.
these are used to study evolutionary conservation of developmental mechanisms
model organisms
examples of model organisms include Caenorhabditis elegans, Arabidopsis thaliana, and Drosophila melanogaster
true or false : all animals use a common set of developmental mechanisms and signaling systems.
true
this ‘universality’ allows findings in model organisms to be relevant to a wide range of species
true or false : model organisms share homology in genes and regulatory mechanisms.
true
model organisms share homologous genes with other species, meaning these genes have a common ancestor. for example, the gene that controls eye development in fruit flies is similar to the gene controlling eye development in humans. the mechanism that regulate gene expression are also often conserved. this means that studying how genes are turned on and off in model organisms can provide insights into gene regulation in other species
true or false : fruit flies (drosophila melanogaster) follow the hierarchy of genes involved in establishing their segmented body plan
true
discuss the hierarchy of genes in establishing the segmented body plan
(1) maternal-effect genes establish the anterior-posterior gradients that will guide the development of the embryo
(2) zygotic gap genes are activated by the gradients set up by maternal-effect genes and divide the embryo into broad regions
(3) zygotic pair-rule genes are activated by the gap genes. they further divide the embryo into segments, typically in pairs, which defines segment borders
(4) zygotic segment polarity genes refine the segmentation process by dividing each segment into anterior and posterior halves
(5) homeotic selector genes determine the identity of each segment. in drosophila, the hox genes determine whether a segment will develop into a part of the thorax, abdomen, or head.
describe these drosophila developmental mutants :
(1) hunchback mutant
(2) Kruppel mutant
(3) knirps mutant
(1) hunchback mutant : lacks a head and thorx structures
(2) Kruppel mutant : lacks thorax and abdominal structures
(3) knirps mutant : lacks most abdominal structures
these mutants are evidences that genes control development. hunchback, kruppel and knirps are genes
a mutation in humans that causes cleidocrania dysplasia (CCD), which is inherited in an autosomal dominant manner; individuals who have this mutation have holes on the top of their skulls as their fontanelles do not close; usually, their collar bones (clavicles) also do not develop. hence, they are capable of folding the shoulders across the chest
RUNX2 gene mutation
a mutation in humans that causes synpolydactyly (SPD); individuals who have this mutations have extra fingers and toes. they also possess abnormalities in the bones of the hands and feet
HOXD13 gene mutation
subfield of genetics that investigates the patterns of genetic variation within and among groups of interbreeding individuals
population genetics
how genes behave in a population
what is a population?
group of individuals who (1) belong to the same species, (2) live in a defined geographic area, and (3) actually or potentially interbreeding
all the genetic information carried by the members of a population
gene pool