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Allelic Variation of HERV-K(HML-2) Endogenous Retroviral Elements in Human Populations

Allelic Variation of HERV-K(HML-2) Endogenous Retroviral Elements in Human Populations. 138th lab seminar 신호수 2005.02.12. Introductions. HERV-K putative tRNA primer binding sites for Lysine 2. HERV-K10, phylogenetic analysis of RT region : 6 HERV-K subgroups, HML-1 to HML-6

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Allelic Variation of HERV-K(HML-2) Endogenous Retroviral Elements in Human Populations

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  1. Allelic Variation of HERV-K(HML-2) Endogenous Retroviral Elementsin Human Populations 138th lab seminar 신호수 2005.02.12

  2. Introductions HERV-K • putative tRNA primer binding sites for Lysine 2. HERV-K10, phylogenetic analysis of RT region : 6 HERV-K subgroups, HML-1 to HML-6 3. HML-2 group was integrated approximately 28 million years ago 4. HML-2 proviral genomes are classified 2 types

  3. Introductions In this study, Examined the genomic structure and integration sites of HML-2 elements that are unique to humans and have investigated their potential role in the remodeling of human genome. and analyzed their utility for the study of human genomic diversity

  4. Materials and Methods • Identification of HERV-K(HML-2) polymorphism 2. DNA samples and PCR primers and conditions – samples from chimpanzee and gorilla along with 25 Africans, 28 Asians, 22 European, and 34 Papua New Guinean humans 3. Sequence and population genetic analysis

  5. Results • Activity of HERV-K elements within the human lineage • 3 novel sequences – 4p16,Xq28,10q24.2 • Formerly identified complete and near-complete sequences

  6. 8 of 18 human specific HML-2 proviral genomes type Ⅰand 10 were type Ⅱ

  7. Results 2. Inter- and Intra elements recombination – comparison of direct repeat sequences

  8. Results • Phylogeny of HML-2 LTRs unique to humans • 87 full length HML-2 LTR aligned – NJ tree • Individual LTR sequences are identified according to their consensus name or genomic location

  9. HERV-K 115 LTR divergence Intraelement recombination

  10. Results 4. Relative age of HML-2 Loci

  11. Discussion • Copy number of HML-2 LTRs • Interlocus Recombination • Gene conversion of HML-2 proviral Loci • HERV-K(HML-2) polymorphisms for the study of human evolution

  12. Discussion HERV-K(HML-2) polymorphisms for the study of human evolution Advantages for study human genomic diversity with HERV • Largr numbers of DNA samples can be rapidly typed using PCR • De-novo insertionof a HERV suquence within the germ line represents a unique event in human genome evolution • HERV sequences are stable • Ancestal state of a HERV squence is ultimately its absence and is represented by preintegration site • LTRs can serve as a molecular clock

  13. Discussion These results further emphasize that for recent evolutionary events,the accumulative nucleotide differences of the LTRs of a HML-2 provirus do not serve as an accurate measure of time since insertion. world. Our survey of the human genomic diversity of HML-2 loci Indicates that the genetic diversity of the African population is far higher than non-African populations and that 90.2 to 99.4% of this genetic variability is within a population, supporting a recent demographic expansion of modern humans from Africa.

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