lecture 5 - Genomic Imprinting Gene 1 paternally imprinted...

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1 Genomic Imprinting Gene 1 – paternally imprinted and maternally expressed Gene 2 – maternally imprinted and paternally expressed Wilkinson LS et al ., Nature Reviews Neuroscience (2007) 8, 832-843
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2 Genomic Imprinting Gene 1 – paternally imprinted and maternally expressed is not expressed in the offspring if it is from father and is expressed if it is from mother. If it is mutated or missing from the mother side, the offspring will have disease, such as Angelman Syndrome. Gene 2 – maternally imprinted and paternally expressed is not expressed in the offspring if it is from mother and is expressed if it is from father. If it is mutated or missing from the father side, the offspring will have disease, such as Prader Willi Syndrome.
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3 http://www.genetics.com.au/pdf/factSheets/FS15.pdf A helpful website about genetic imprinting
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4 A pedigree with a disease-causing mutation of a paternally expressed and maternally silenced gene, The offspring are only affected when the mutation is transmitted through male germ cells
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5 Figure 7-90 Molecular Biology of the Cell (© Garland Science 2008) XIC – X-inactivation center
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6 X inactivation • XIST RNA binding, DNA hypermethylation, histone hypoactylation, macroH2A1.2 incorporation to the X chromosome that produced XIST RNA lead to the inactivation of this X chromosome • Result: condense the inactivated X chromosome to form Barr body and silent most of genes on this inactivated X chromosome • XIST RNA only binds to the same X chromosome that produces XIST RNA • There are genes escape the inactivation due to the low level of XIST binding to their loci.
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8 Molecular Basis of Human Disease BIMM 110 Spring 2010 Lecture 5 Meiotic nondisjunction and related human diseases
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9 Figure 17-47 Molecular Biology of the Cell (© Garland Science 2008) http://www.sumanasinc.com/webcontent/animations/content/meiosis.html
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10 Centromere - a joint point of a metaphase chromosome. Kinetochore - the outer surface of the centromere, where spindle fibers directly attached during cell division. Chromatid, Centromere, Kinetochore
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12 Nondisjunction (chromosome not separated) occurs in meiosis I - homologous chromosome pairs go to the same daughter cell. Result: Two of the gametes have an extra chromosome, and the other two are missing a chromosome. Nondisjunction in meiosis I
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13 Nondisjunction occurs in meiosis II - sister chromatids segregate to the same daughter cell. Result: Two of the gametes have normal numbers of chromosome, one has an extra chromosome, and the other one is missing a chromosome. Nondisjunction in meiosis II
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14 Meiotic Nondisjunction Nondisjunction occurs in meiosis I, all gametes are abnormal. Nondisjunction occurs in meiosis II, there is a 50% chance that a normal gamete will be fertilized.
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15 Trisomy Monosomy
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16 Consequence of Meiotic Nondisjunction • Autosomal monosomies are lethal. • 40% to 50% of first-trimester spontaneous abortuses are
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lecture 5 - Genomic Imprinting Gene 1 paternally imprinted...

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