遗传学第四章性别决定与伴性遗传.ppt

* 46，XX，男性：X、Y染色体易位，父源X染色体上有Y染色体SRY基因。 46，XY，女性： Y染色体上SRY基因缺失。 * 性决定基因SRY决定第一性征，性激素决定第二性征。 * * The exact same mutation/deletion on chrom 15 causes these 2 different phenotypes. How can this happen? Define * * Do you remember that there are enzymes that have the ability to methylate cytosines. * The hardest part is that the genes are both imprinted and mutated. Therefore, the presenter needs to make very clear that these are distinct. The dominant and recessive columns were done together first as a group activity. Then, using clickers, we slowly went through the maternally imprinted column (vote, discuss, re-vote). Finally, we quickly did paternally imprinted more quickly. * *  ♂Igf-2m / Igf-2m × ♀Igf-2 / Igf-2 ↓ Igf-2▲ / Igf-2m 母源的Igf-2被印迹，父源的Igf-2m表达，后代为矮小型小鼠。 试验结果表明： 正反交结果不一样； 都是母源的基因被印迹，是一种母系印迹； 被印迹的基因表达受抑制，失去生物学功能。 *  ○ 基因的印迹过程的三个阶段 建立阶段——上例母系印迹，印迹在卵子形成过程中建立。 维持阶段——在胚胎和个体的体细胞中，来自母系的基因继续维持被印迹的状态，父源的等位基因得到表达。 抹除与重建阶段——发生在配子形成的过程中 * 图 基因印迹过程的三个阶段 * 基因印迹的机制 配子在形成过程中被打上标记 DNA的甲基化，阻止基因的转录 低甲基化或不甲基化：转录活跃的基因 高度甲基化：不表达的基因 What is Imprinting? Imprinted chromosomes are “marked” Imprinting differs in sperm and egg Imprinting turns off specific genes Imprinting does not change the nucleotide sequence CH3 CH3 Think-Pair-Share/ review from last semester Hypothesize some ways that the DNA is imprinted? Formative Assessment; Bloom’s Synthesis (3/4) DNA can be Methylated on cytosine residues Gene expression active Gene expression inactive -CH3 (METHYL group) Gene A Paternal Gene A Maternal X CH3 CH3 X CH3 CH3 Mendelian Imprinted A mutation in Gene A may cause a change in phenotype when: Dominant Recessive Maternally imprinted Paternally imprinted 1. The maternal copy is mutated 2. The paternal copy is mutated 3. When both copies are mutated With your clicker, press A for “yes” and B for “no” Yes Yes Yes No No Yes No Yes Yes Yes No Yes Formative Assessment; Recall;