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UI BIOL 1411 - Developmental Genetics and Mutations
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BIOL 1411 1st Edition Lecture 27Outline of Last Lecture I. Eukaryotic Gene Expression Outline of Current Lecture I. Developmental Genetics & MutationsLecture Developmental Genetics- Pattern formation: the process that results in the spatial organization of tissueso Linked with morphogenesiso Programmed cell death- apoptosis- is also important. Many cells and structures form and then disappear during development.  In developing human embryos, connective tissue links the fingers and toes. Later, the cells between the digits die. - Morphogen gradients provide spatial information for pattern formationo Fate of a cell is often determined by where the cell iso Positional information come in the form a type of inducer, a morphogen, which diffuses from one group of cells to another, setting up a concentration gradient- Shh- sonic hedge hog, a morphogen - Pattern formation in drosophila melanogaster o the adult fruit fly drosophila melanogaster has a segmented body: head, thorax, and abdomen, each made of several segments established in the embryo- Segment identity in drosophilao Specification of body regions begins already when a female drosophila makes hereggs= maternal effect geneso A series of embryonic genes are turned on and define the position of each cell in a segment relative to these axes= segmentation geneso The hox genes control the ultimate identity of each body part (antenna, eye, leg, wing) Genes in each stop code for transcription factors that control synthesis of later-acting transcription factors: a transcriptional cascade- Segment identity in drosophilao The maternal effect genes regulate expression of segmentation gene which define segment number and orientation of each segmentThese notes represent a detailed interpretation of the professor’s lecture. GradeBuddy is best used as a supplement to your own notes, not as a substitute.o Three classes of genes act in sequence: Gap genes organize broad areas Pair rule genes divide embryo into units of two segments each Segment polarity genes determine boundaries and anterior-posterior organization in individual segments o Hox Genes Are expressed in different combinations along the length of the embryo. They determine the morphology of each segment Are in two clusters, ordered the same as their spatial expression in the embryo  Clues to hox gene function came from homeotic mutants; mutants with mis- regulation of gene expression Hox genes are present in all animals including humans All hox genes encode highly similar DNA-binding proteins - Mutationso Mutations occur in two types: Somatic mutations- occur in somatic cells- passed on by mitosis but not tosexually produced offspring Germ line mutations- occur in germ line cells, the cells that give rise to gametes. A gamete passes a mutation on at fertilization  A genetic mutation- is a change in the nucleotide sequence of DNA that istransmitted to the next generation o Relationships between mutations and gene function Silent mutations- do not change polypeptide sequence, thus do not affectprotein function Loss of function mutations- affect protein function and may lead to structural proteins or enzymes that no longer work- almost always recessive Gain of function mutations- lead to a protein with altered function Conditional mutations- cause phenotypes under restrictive conditions butare not detectable le under permissive conditions o Classification of mutations( at the level of DNA sequence) Point mutation- results from the gain, loss, or substitution of a single basepair of DNA Small indels- insertions or deletions of a few to hundreds of base pairs of DNA Chromosomal mutations are more extensive- may change the position of genes or cause multiple genes in a DNA segment to be duplicated or


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UI BIOL 1411 - Developmental Genetics and Mutations

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