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2 학습목표 1. 영장류에서평행진화를이해한다. 2. 평행진화와신경정신분열증의관계를고찰한다. 3. 향상진화와분지진화를인식한다. 4. 진화와유전자중복의상호관계를이해한다. 5. 생물종표현형의유전자발현에서 CTCF-Insulator, Enhancer, Cytosine methylation 의상호관계를이해한다.

3 지난시간줄거리 다양한생물종들은바이러스와세균등으로투쟁과공존속에서진화해왔으며, 자연적으로, 우연히, 변화와선택으로유전적인다양성을야기 => 움직이는이동성유전인자의활성화 2. 다양한생물종의분류마커로서 Y- 염색체상의유전인자를활용한다 ( 부계유전 ). 3. 인간과침팬지구분되는포인트는뇌용량차이, 뇌에서발현하는유전인자의차이등이다. 4. 동물계통분류학의연구 3 단계는식별분석 ( 동정 ), 비교분석 ( 분류 ), 계통추적 ( 계통 ) 작업이다.

4 지난시간줄거리 Phylogeny( 계통학 ): 진화적으로계통적유연관계를추적하여계통의족보를작성하여연구하는학문. 2.Evolution( 진화학 ): 선택압으로환경의변화에대해생물의유전적적응의결과로일어나는유전자의군또는빈도의변화를연구하는학문. 3.Convergent evolution( 수렴진화 ): 둘이상의서로다른종들이오랜기간동안격리되어동일한환경에서식하면서적응한결과로계통발생적기원이다르다하여도구조나형질이유사해진현상. 4. Homoplasy( 상사 ): 수렴진화로만들어진공통의형질 5. Parallel evolution( 평행진화 ): 한생물학적으로고립된군에서계통발생적유연관계는가까운종들과는다르게그들의공통조상에서없는독특한구조또는형질의발달을나타내는현상.

6 한생물학적으로고립된분류군에서계통발생적유연관계는가까운종들과는다르게그들의공통조상에서없는독특한구조또는형질의발달을나타내는현상 - 혹개미속에는 1100 종의개미있음. - 혹개미는골리앗개미를생산할수있는유전자가지고있어, 유전자에숨겨진스위치를환경적처리로켤수있음. = 개미의평행진화 =

7 J Gen Virol Oct;80 ( Pt 10): Isolation and phylogeny of endogenous retrovirus sequences belonging to the HERV-W family in primates Kim HS, Takenaka O, Crow TJ. POWIC, Department of Psychiatry, Warneford Hospital, University of Oxford, UK. An investigation was undertaken of primate pol gene sequences from a novel endogenous retrovirus family, ERV-W, related to a new human endogenous retrovirus family (HERV-W) that includes multiple sclerosis-associated retrovirus (MSRV) sequences identified in particles recovered from monocyte cultures from patients with multiple sclerosis. The pol gene sequences of the ERV-W family were detected in hominoids and Old World monkeys, but not in New World monkeys, whereas ERV-W long terminal repeat-like elements were detected in all primates (hominoids, Old World monkeys and New World monkeys). Thirty-two pol gene sequences from hominoids and Old World monkeys showed a high degree of sequence identity to MSRV and other HERV-W sequences. Phylogenetic analysis indicated close relationships of pol gene sequences across primate species. The analysis suggests that the ERV-W family has evolved independently but in constrained patterns ('parallel evolution') in different primate species, including man. The ratio of synonymous to non-synonymous substitutions indicated that negative selective pressure is acting on CHW1-1 from chimpanzee, HBW6-6 from baboon and HWX5 from man, sequences that have no disruption by point mutation or insertions/deletions. Therefore, these pol gene sequences could be associated with an active provirus in primates. The findings indicate that the ERV-W family has continued to evolve in the course of the primate radiation and may include members with a capacity to influence gene function and possibly cause disease.

8 Arch Virol. 1999;144(10): Phylogenetic analysis of HERV-K LTR-like elements in primates: presence in some new world monkeys and evidence of recent parallel evolution in these species and in homo sapiens. Kim HS, Wadekar RV, Takenaka O, Hyun BH, Crow TJ. Department of Psychiatry, Warneford Hospital, University of Oxford, Oxford, U.K. Solitary long terminal repeats (LTRs) of the human endogenous retroviruses K family (HERV-K) have been found to be coexpressed with sequences of closely located genes. We identified forty-three HERV-K LTR-like elements in primates (African great apes, two Old World monkeys, and two New World monkeys) and analyzed them along with humanspecific HERV-K LTRs. We report detection of HERV-K LTR-like elements from New World monkeys, as represented by the squirrel monkey and the night monkey, for the first time. Analysis revealed a high degree of sequence homology with human-specific HERV-K LTRs. A phylogenetic tree obtained by the neighbor-joining method revealed that five sequence (SMS-1, 2, 5, 6, 7) from the squirrel monkey and three sequences (NM6-4, 5, 9) from the night monkey are more closely related to human-specific HERV-K LTRs than they are to those of apes (the chimpanzee and gorilla) and Old World monkeys (the African green monkey and rhesus monkey). The findings are consistent with the concept the HERV-K LTR-like elements have proliferated independently and recently in the genome of primates, and that such proliferation has been more recent in Homo sapiens and in these representatives of New World monkeys than in some Old World monkeys.

9 PCR Analysis for the Presence of HERV-K LTRs in Primates M Hu Ch Go Or Gi Jm Ba Rm Gm Sm Nm Arch Virol. 1999;144(10): Phylogenetic analysis of HERV-K LTR-like elements in primates: presence in some new world monkeys and evidence of recent parallel evolution in these species and in homo sapiens. Kim HS, Wadekar RV, Takenaka O, Hyun BH, Crow TJ.

12 평행진화와수렴진화는둘모두무엇보다도격리되어진화하는생물種들이오랜기간에걸쳐동일한자연선택의압력을경험하기때문에발생하는것

17 Drosophila phylogeny

18 Phylogenetic tree represents evolutionary relationships

22 학습요약정리 영장류의진화과정동안, HERV-W=MSRV 및 HERV-K LTR family 는평행진화를해왔다. 2. 평행진화해온 HERV-W 는다발성경화증및신경정신분열증과연루되어있다. 3. 진화과정에서잘보존되어온 cytochrome C 유전자의분석으로다양한생물종을계통분류할수있다.

23 다음차시예고 1. 향상진화와분지진화란? 2. 진화의핵심은유전자중복. 3. 인슐레이터에결합하는 CTCF, 시토신의메틸레이션 - 인핸서관계가유전자발현에미치는영향 ( 생물종표현형조절 ).

24 향상진화 (anagenesis): 계통적진화 (phyletic evolution) - 하나의가계내에서연속적인변화를보여줌 - 긴시간동안상대적으로적은표현형적변화를보여줌 ( 예, 말발굽게 ) 분지진화 (cladogenesis): 계통적가지치기 (phylogenetic branching) - 하나의가계내에서하나이상의종이나도록분리 - 긴시간동안명백하게가지가나뉘짐 ( 예, 말 )

25 향상진화 ( 계통적진화 ) * 하나의가계내에서연속적인변화를보여줌 * 긴시간동안상대적으로적은표현형적변화를보여줌 퇴구강절지동물 ( 말발굽게 ; horseshoe crab)

26 Hippidion Pliocene Equus Miocene Oligocene Eocene

29 ( 갱신세 ) ( 선신세 ) ( 중신세 ) 23 Myr ago

30 African equids Asian hemiones Hippidion Caballines Stilt-legged 5 Specific groups AF Przewalskii NC Domestic Equus przewalski Equus caballus Mt DNA Control Region HVR1 and HVR2 583 bp & 133 bp Patagonia Yukon South American genus North American stilt-legged horses NC Donkey Striped equids of Africa Equus grevyi Equus burchelli Equus zebra AF Plains zebra AF Kiang The major population of Asian hemionus is found in southern Mongolia. AF Onager

31 생물은다양하나공통된특징을갖는다. 그다양성과공통점은진화 (EVOLUTION) 로설명된다. 생명체의다양성 DNA 염기서열의다양성! DNA 유전정보는생물상호간의모든특징의근원

32 0.2% / Myr in HERV-H family

36 학습요약정리 향상진화 ( 계통적진화 ): 하나의가계내에서연속적인변화를보여줌. 긴시간동안상대적으로적은표현형을보여준다. 2. 분지진화 ( 계통적가지치기 ): 하나의가계내에서하나이상의종이나도록분리. 긴시간동안명백하게계통적가지가나뉜다. 3. 진화를야기시키는핵심적인파워는 gene duplication( 유전자중복 ) 이다. 4. Insulator 에의해유전자발현이조절된다. 시토신의메틸레이션현상과인핸서가상호연루되어있다.

37 다음차시예고 1. 동물계통분류학의핵심기술소개 2.PCR-Cloning-Sequencing. 3. 유사서열과이종상동서열의차이점 4. 계통분류학의현황과전망.

Can032.hwp

Can032.hwp Chromosomal Alterations in Hepatocellular Carcinoma Cell Lines Detected by Comparative Genomic Hybridization Sang Jin Park 1, Mahn Joon Ha, Ph.D. 1, Hugh Chul Kim, M.D. 2 and Hyon Ju Kim, M.D. 1 1 Laboratory