表观遗传学与基因组印记材料.pptVIP

Homework: To further assess your understanding of Mendelian inheritance versus inheritance of imprinted genes Is this disease dominant? Why or why not? Is this disease recessive? Why or why not? Can the disease be inherited from the paternal side? Can the disease be inherited from the maternal side? Does this show Mendelian inheritance? Define imprinting in your own words. Look at the following pedigree and answer the questions below. * * * * * * * The exact same mutation/deletion on chrom 15 causes these 2 different phenotypes. How can this happen? * 单独的图片,在资料中 * 见ＰＷＳ文件夹,单独的图片,在资料中 The X on the gene was a point of confusion. Make explicit that it indicates that the imprinting shuts off expression. Also, some people were confused that the mRNA intermediate was not shown. Again, the presenter can verbally clarify this. Finally, some people were confused as to whether the adjacent genes could be co-regulated since we did not show distinct promoters. These were left out to keep the slide simple, so the presenter might want to specify that the genes are independently regulated. * * The exact same mutation/deletion on chrom 15 causes these 2 different phenotypes. How can this happen? * Diagram shows only what happens to germ line imprints. Imprinting cycle Laid down in germ line of parent In offspring, methylations in germ line erased at early stage and re-established (reset) later according to sex of the new org. In somatic cells, imprints maintained modified during development * 生殖细胞的甲基化印记 卵细胞 精子 在卵母细胞生长时期,基因组中母源印迹消失。并且印迹不会同时都建立起来,相反,每一个印迹基因都有特殊时期被甲基化。 尽管精子的特性影响甲基化的程度,但是决定父母源基因是否甲基 化的主要原因在于卵母细胞的特点。 与卵细胞一样, 精子在发育过程中印迹也消失,DNA 甲基化水平的增长不仅有助于建立父源印迹,还建立其他非印迹序列的甲基化。 Histone Modification Histone acetylation generally creates an accessible chromatin conformation while histone deacetylation, often coupled to histone methylation, initiates a compressed chromatin conformation. Histone methylation can confer both an active or repressed transcriptional state dependin