上海交通大学教授李大伟电邮daweili(@sjtu.edu.cn 电话：34204744 助教陈昊 电话：34205436 上海交通大学通识核心课 Genes and Human 基因是生命延续的必然选择 Gene Is The Choice of Lives >人类的历史是人类基因扩张的历史
2022-3-11 1 1 Genes and Human 上海交通大学通识核心课 上海交通大学教授 李大伟 电邮 daweili@sjtu.edu.cn 电话：34204744 助教 陈 昊 电话：34205436 基因是生命延续的必然选择 Gene Is The Choice of Lives Ø人类的历史是人类基因扩张的历史
5.Genes and Human Evolution 第五章：人类进化基因选择 1.Human Genes:Mutation Drive Human History 人类基因：基因突变推动人类历史 2.Modern Human( (Homo Sapiens) v.s.The Last Neanderthal 现代人和最后一个尼安德特人 3.Genes and Collaboration: Power and Knowledge Beyond Death 基因与合作：超越死亡的力量扩展与知识积累 2022-3-11
2022-3-11 1 2 5. Genes and Human Evolution 第五章 ：人类进化-基因选择 1. Human Genes: Mutation Drive Human History 人类基因：基因突变推动人类历史 2. Modern Human (Homo Sapiens) v.s. The Last Neanderthal 现代人和最后一个尼安德特人 3. Genes and Collaboration: Power and Knowledge Beyond Death 基因与合作：超越死亡的力量扩展与知识积累
讨论题：什么特征使得一些狼更容易驯化？ Discussion:What make some wolves more likely to be domesticated than others? 相关科学研究进展： Human knowledge advances through scientific research Single-gene model Polygenic model Science DAAAS Science Domestication 29 August 2014: Perspective:Evolution On the origin of Peter Rabbit Kirk E.Lohmueller many genetic variants across the genome have been affected by natural selection throughout domestication.Further,these variants tend to be in regulatory regions located in genes related to brain development 2022-3-11 3
2022-3-11 1 3 讨论题：什么特征使得一些狼更容易驯化？ Discussion: What make some wolves more likely to be domesticated than others? 相关科学研究进展： Human knowledge advances through scientific research Science 29 August 2014: Perspective: Evolution On the origin of Peter Rabbit Kirk E. Lohmueller many genetic variants across the genome have been affected by natural selection throughout domestication. Further, these variants tend to be in regulatory regions located in genes related to brain development
Fig.1 Experimental design and population data.(A)Images of the six rabbit breeds included in the study(sized to reflect differences in body weight)and of a wild rabbit. Dutch French lop A Wild Belgian hare rabbit Champagne d'argent Flemish giant New Zealand white B Time C Belgian hare Champagne d'argent Dutch 1,800.000 Flemish giant 18.,000 French lop New Zealand white FRW1 1400 FRW2 FRW3 IW1 200 IW2 IW3 IW4 IW5 w6 W7 Iw8 IW9 W10 W11 0.010.0080.0060.0040.002 0 Nucleotide diversity M Carneiro et al.Science 2014:345:1074-1079 Science DTAAAS Published by AAAS
Fig. 1 Experimental design and population data.(A) Images of the six rabbit breeds included in the study (sized to reflect differences in body weight) and of a wild rabbit. M Carneiro et al. Science 2014;345:1074-1079 Published by AAAS
Fig.2 Selective sweep and A allele frequency analyses.(A)Plot of FST values between wild and domestic rabbits. A 0.7 0.6 0.5 0.4 0.3 联 0.2 0.1 10 11 12 13 15 16 18192021× Unassigned scaffolds Chromosome B Heterozygosity 0.4 Heterozygosity 0 0.5 05 M H△AP A△AP 1.00 1.00 0.75 UULL hnLL小M鱼 LMl 0,75 叠，L FAT-Hat FT-Het Sweepfinder Sw GRIK2 CCDC 9FXRT S0X2-0T* 215 22757 NAJC19 Chr12 89 0 81 92 93 Mb Chr14 75 76 78 79 Mb D E 7.000.000 0.4 11.0 29 mammals constraint-no gene overlap ▣△AF>=0.8 6,000.000 UTRCoding-Intron 0.8 ▣△AF<O.8 5,000.000 0.6 0.3 4,000.000 坐 气 0.4 3.000.000 0.2 2.000.000 0.2 0.1 1.000,000 0.0 0 -0.2 0-21900 000-00 020100 030-020 880-30 330-030 060-80 望 国 层 曼 是 笔 A allele frequency bins Location relative to nearest TSS Published by AAAS M Carneiro et al.Science 2014:345:1074-1079
Fig. 2 Selective sweep and Δ allele frequency analyses.(A) Plot of FST values between wild and domestic rabbits. Published by AAAS M Carneiro et al. Science 2014;345:1074-1079
人的23对染色体（女） 染色体多彩荧光染色 分裂前细胞核 出>分ii 2 5 引引出用沿 6 78 9 10 11 12 CH 9G 13 14 15 16 17 18 19 20 21 22 X 分裂中的染色体
人的23对染色体 （女） 染色体多彩荧光染色 分裂前 细胞核 分裂中的染色体
人类基因组顶目-全球合作典范 染色体号 长度(mm) 碱基对 变量 确认蛋白数 可能蛋白数 1 85 249,250,621 4,401,091 2,012 3 23 243,199,373 4,607,702 1,203 50 67 198,022,430 3,894,345 1,040 25 4 65 191,154,276 3,673,892 718 39 5 62 180,915,260 3,436,667 849 24 6 58 171,115,067 3,360,890 1,002 39 54 159,138,663 3,045,992 866 34 50 146,364,022 2,890,692 659 48 141,213,431 2,581,827 785 15 46 135,534,747 2,609,802 745 18 890123456789042 46 135,006,516 2,607,254 1,258 48 45 133,851,895 2,482,194 1,003 47 39 115,169,878 1,814,242 318 8 107,349,540 1,712,799 601 50 3 102,531,392 1,577,346 562 90,354,753 1,747,136 805 6 81,195,210 1,491,841 1,158 44 2 78,077,248 1,448,602 268 20 59,128,983 1,171,356 1,399 26 21 63,025,520 1,206,753 533 13 16 48,129,895 787,784 225 17 51,304,566 745,778 431 2 53 155,270,560 2,174,952 815 Y 20 59,373,566 286,812 45 -3-11 染色体DNA总长1.052米，~2万5千个基因， 870
2022-3-11 1 7 染色体号 长度(mm) 碱基对 变量 确认蛋白数 可能蛋白数 1 85 249,250,621 4,401,091 2,012 31 2 83 243,199,373 4,607,702 1,203 50 3 67 198,022,430 3,894,345 1,040 25 4 65 191,154,276 3,673,892 718 39 5 62 180,915,260 3,436,667 849 24 6 58 171,115,067 3,360,890 1,002 39 7 54 159,138,663 3,045,992 866 34 8 50 146,364,022 2,890,692 659 39 9 48 141,213,431 2,581,827 785 15 10 46 135,534,747 2,609,802 745 18 11 46 135,006,516 2,607,254 1,258 48 12 45 133,851,895 2,482,194 1,003 47 13 39 115,169,878 1,814,242 318 8 14 36 107,349,540 1,712,799 601 50 15 35 102,531,392 1,577,346 562 43 16 31 90,354,753 1,747,136 805 65 17 28 81,195,210 1,491,841 1,158 44 18 27 78,077,248 1,448,602 268 20 19 20 59,128,983 1,171,356 1,399 26 20 21 63,025,520 1,206,753 533 13 21 16 48,129,895 787,784 225 8 22 17 51,304,566 745,778 431 21 X 53 155,270,560 2,174,952 815 23 Y 20 59,373,566 286,812 45 8 mtDNA 0.00染54 色体 16,569 929 13 0 DNA 总长 1.052米，～2万5千个基因， 人类基因组项目-全球合作典范
人类基因组编码蛋白的基因只占2% LTR retro- DNA transposons transposons 3% 8% Simple sequence repeats SINEs 3% 13% Segmental duplications 5% Misc. LINEs heterochromatin 20% 8% Misc.unique sequences 12% Protein-coding genes Introns 2% 26% Components of the Human Genome
人类基因组编码蛋白的基因只占 2%
人的基因组对基因表达调控的基因（转录因子）凸显重要性 与黑猩猩的区别：脑部发育和脑部特异基因占大多数 32对染色体，单倍体总DNA=32亿对碱基，2万乃千多个基因， 每个细胞2套基因，是双倍体(2n),DNA总长2米 转录因子12%是最多的 DNA/RNA结合蛋白8.5% 信号蛋白5.6% isomerases;94;0,5% unclassified:4061;23,6% extracellular matrix proteins;72;0,4% receptors;1076;6,3% proteases;476;2,8% storage proteins;15;0,1% 未分类 cytoskeletal proteins;441;2,6% structural proteins;280;1,6% transporters;1098;6,4% surfactants;15;0,1% trans membrane receptor regulatory cell junction proteins;67;0,4% /adaptor proteins;84;0,5% chaperones;130;0,8% transferases;1512;8,8% transcription factors;2067;12,0% oxidoreductases;550;3,2% phosphatases;230;1,3% yases;104;0,6% membrane traffic proteins;321;1,9% cell adhesion molecules;93;0,5% transfer/carrier proteins;248;1,4% hydrolases;454;2,6% ligases;260;1,5% defense/immunity proteins;107;0,6% nucleic acid binding;1466;8,5% calcium-binding proteins;63;0,4% signaling molecules;961;5,6% viral proteins;7;0,0% enzyme modulators;857:5,0%
未分类- 转录因子 12% 是最多的一类 32对染色体，单倍体总DNA =32亿对碱基，2万5千多个基因， 每个细胞2套基因，是双倍体（2n），DNA 总长2 米 人的基因组对基因表达调控的基因（转录因子）凸显重要性 与黑猩猩的区别：脑部发育和脑部特异基因占大多数 DNA/RNA结合蛋白 8.5% 信号蛋白 5.6%
基因突变推动人类历史 1、动物胚胎发育的相似性源于发育前期所需基本基因的相似性 鱼 龟 鸟 猪 人 2022-3-11 10
2022-3-11 1 10 基因突变推动人类历史 1、动物胚胎发育的相似性源于发育前期所需基本基因的相似性 鱼 龟 鸟 猪 人