Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

BMC Medical Genomics

Volumn 3, Issue , 2010, Pages

  Plunkett, Jevon ^a,b   Doniger, Scott ^b   Morgan, Thomas ^a,c   Haataja, Ritva ^d   Hallman, Mikko ^d   Puttonen, Hilkka ^e   Menon, Ramkumar ^f,g   Kuczynski, Edward ^h   Norwitz, Errol ^h   Snegovskikh, Victoria ^h   Palotie, Aarno ^i,j,k   Peltonen, Leena ^i,j   Fellman, Vineta ^i,l   Defranco, Emily A ^m   Chaudhari, Bimal P ^b   Oates, John ^a   Boutaud, Olivier ^a   McGregor, Tracy L ^a   McElroy, Jude J ^a   Teramo, Kari ^e   Borecki, Ingrid ^b   Fay, Justin C ^b   Muglia, Louis J ^a   more..

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF OULU   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f Perinatal Research Center   (United States)

^g EMORY UNIVERSITY   (United States)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF HELSINKI   (Finland)

^j BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^k WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^l LUND UNIVERSITY   (Sweden)

^m UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOLIPASE A2 GROUP IV; PROSTAGLANDIN; THROMBOXANE; PLA2G4C PROTEIN, HUMAN;

ADULT; AFRICAN AMERICAN; ARTICLE; CAUCASIAN; CHROMOSOME 1; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE TARGETING; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOMICS; GENOTYPE; HISPANIC; HUMAN; HUMAN VERSUS NONHUMAN DATA; MAJOR CLINICAL STUDY; METABOLITE; NONHUMAN; PHYLOGENY; PLA2G4C GENE; PREMATURE LABOR; PRIORITY JOURNAL; PROSTAGLANDIN SYNTHESIS; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; BIOSYNTHESIS; BIRTH; CHROMOSOME 19; ETHNOLOGY; GENE EXPRESSION REGULATION; GENETICS; INTRON; MOLECULAR EVOLUTION; PHYSIOLOGY; PREMATURITY; PRIMATE;

MAMMALIA; PRIMATES;

ANIMALS; BIOSYNTHETIC PATHWAYS; CHROMOSOMES, HUMAN, PAIR 19; EVOLUTION, MOLECULAR; GROUP IV PHOSPHOLIPASES A2; HUMANS; INTRONS; MUTAGENESIS, INSERTIONAL; PARTURITION; PHYLOGENY; PREMATURE BIRTH; PRIMATES; PROSTAGLANDINS;

EID: 78650506843     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/1755-8794-3-62     Document Type: Article

References (31)

1. The genetics of birth timing: insights into a fundamental component of human development. BP Chaudhari J Plunkett CK Ratajczak TT Shen EA DeFranco LJ Muglia, Clin Genet 2008 74 6 493 501 10.1111/j.1399-0004.2008.01124.x 19037974
2. Genetic contributions to preterm birth: Implications from epidemiological and genetic association studies. J Plunkett LJ Muglia, Ann Med 2008 40 3 167 179 10.1080/07853890701806181 18382883
3. Are animal models relevant to key aspects of human parturition? BF Mitchell MJ Taggart, Am J Physiol Regul Integr Comp Physiol 2009 297 3 525 545 19515978
4. Birth, obstetrics and human evolution. K Rosenberg W Trevathan, BJOG 2002 109 11 1199 1206 10.1046/j.1471-0528.2002.00010.x 12452455
5. Positive and negative selection on the human genome. JC Fay GJ Wyckoff CI Wu, Genetics 2001 158 3 1227 1234 11454770
6. Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates. KA Frazer X Chen DA Hinds PV Pant N Patil DR Cox, Genome Res 2003 13 3 341 346 10.1101/gr.554603 12618364
7. Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution. A Wetterbom M Sevov L Cavelier TF Bergstrom, J Mol Evol 2006 63 5 682 690 10.1007/s00239-006-0045-7 17075697
8. Gain of new exons and promoters by lineage-specific transposable elements-integration and conservation event on CHRM3 gene. JW Huh YH Kim SR Lee H Kim DS Kim HS Kim HS Kang KT Chang, Mol Cells 2009 28 2 111 117 10.1007/s10059-009-0106-z 19669628
9. Lineage specific evolutionary events on SFTPB gene: Alu recombination-mediated deletion (ARMD), exonization, and alternative splicing events. JR Lee JW Huh DS Kim HS Ha K Ahn YJ Kim KT Chang HS Kim, Gene 2009 435 1-2 29 35 10.1016/j.gene.2009.01.008 19393186
10. Distinct phospholipase A2 enzymes regulate prostaglandin E2 and F2alpha production by bovine endometrial epithelial cells. PK Tithof MP Roberts W Guan M Elgayyar JD Godkin, Reprod Biol Endocrinol 2007 5 16 10.1186/1477-7827-5-16 17459165
11. Preterm Birth: Causes, Consequences, and Prevention. Committee on Understanding Premature Birth and Assuring Healthy Outcomes, Washington, D.C.: The National Academies Press 2006
12. The genome sequence of taurine cattle: a window to ruminant biology and evolution. CG Elsik RL Tellam KC Worley RA Gibbs DM Muzny GM Weinstock DL Adelson EE Eichler L Elnitski R Guigo,, et al. Science 2009 324 5926 522 528 10.1126/science.1169588 19390049
13. Aligning multiple genomic sequences with the threaded blockset aligner. M Blanchette WJ Kent C Riemer L Elnitski AF Smit KM Roskin R Baertsch K Rosenbloom H Clawson ED Green,, et al. Genome Res 2004 14 4 708 715 10.1101/gr.1933104 15060014
14. Heritability of parturition timing: an extended twin design analysis. ZA Kistka EA DeFranco L Ligthart G Willemsen J Plunkett LJ Muglia DI Boomsma, Am J Obstet Gynecol 2008 199 1 43 e41 45 10.1016/j.ajog.2007.12.014 18295169
15. Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth. J Plunkett MF Feitosa M Trusgnich MF Wangler L Palomar ZA Kistka EA DeFranco TT Shen AE Stormo H Puttonen,, et al. Hum Hered 2009 68 3 209 219 10.1159/000224641 19521103
16. Familial patterns of preterm delivery: maternal and fetal contributions. AJ Wilcox R Skaerven RT Lie, Am J Epidemiol 2008 167 4 474 479 10.1093/aje/kwm319 18048376
17. A second generation human haplotype map of over 3.1 million SNPs. The International HapMap Consortium, Nature 2007 449 7164 851 861 10.1038/nature06258 17943122
18. Human non-synonymous SNPs: server and survey. V Ramensky P Bork S Sunyaev, Nucleic Acids Research 2002 30 17 3894 3900 10.1093/nar/gkf493 12202775
19. SIFT: predicting amino acid changes that affect protein function. PC Ng S Henikoff, Nucleic Acids Research 2003 31 13 3812 3814 10.1093/nar/gkg509 12824425
20. A novel calcium-independent phospholipase A2, cPLA2-gamma, that is prenylated and contains homology to cPLA2. KW Underwood C Song RW Kriz XJ Chang JL Knopf LL Lin, J Biol Chem 1998 273 34 21926 21932 10.1074/jbc.273.34.21926 9705332
21. Prostaglandins in labor - a translational approach. AH Khan RJ Carson SM Nelson, Front Biosci 2008 13 5794 5809 10.2741/3117 18508623
22. The levels of five markers of hemostasis and endothelial status at different stages of normotensive pregnancy. M Hayashi T Inoue K Hoshimoto H Hirabayashi H Negishi T Ohkura, Acta Obstet Gynecol Scand 2002 81 3 208 213 11966476 (Pubitemid 34264135)
23. Inhibition of cyclooxygenase-2 prevents inflammation-mediated preterm labor in the mouse. G Gross T Imamura SK Vogt DF Wozniak DM Nelson Y Sadovsky LJ Muglia, Am J Physiol Regul Integr Comp Physiol 2000 278 6 1415 1423 10848506
24. Cellular mechanisms by which oxytocin mediates ovine endometrial prostaglandin F2alpha synthesis: role of G(i) proteins and mitogen-activated protein kinases. PD Burns JO Mendes Jr RS Yemm CM Clay SE Nelson SH Hayes WJ Silvia, Biol Reprod 2001 65 4 1150 1155 10.1095/biolreprod65.4.1150 11566737
25. Mouse cPLA2[gamma], a novel oocyte and early embryo-abundant phospholipase A2 gamma-like protein, is targeted to the nuclear envelope during germinal vesicle breakdown. A Vitale J Perlin L Leonelli J Herr P Wright L Digilio S Coonrod, Developmental Biology 2005 282 2 374 384 10.1016/j.ydbio. 2005.03.018 15950603
26. Haploview: analysis and visualization of LD and haplotype maps. JC Barrett B Fry J Maller MJ Daly, Bioinformatics 2005 21 2 263 265 10.1093/bioinformatics/bth457 15297300
27. The structure of haplotype blocks in the human genome. SB Gabriel SF Schaffner H Nguyen JM Moore J Roy B Blumenstiel J Higgins M DeFelice A Lochner M Faggart,, et al. Science 2002 296 5576 2225 2229 10.1126/science.1069424 12029063
28. Risk alleles for multiple sclerosis identified by a genomewide study. DA Hafler A Compston S Sawcer ES Lander MJ Daly PL De Jager PI de Bakker SB Gabriel DB Mirel AJ Ivinson,, et al. N Engl J Med 2007 357 9 851 862 10.1056/NEJMoa073493 17660530
29. PLINK: a tool set for whole-genome association and population-based linkage analyses. S Purcell B Neale K Todd-Brown L Thomas MA Ferreira D Bender J Maller P Sklar PI de Bakker MJ Daly,, et al. Am J Hum Genet 2007 81 3 559 575 10.1086/519795 17701901
30. Avoiding the high Bonferroni penalty in genome-wide association studies. X Gao LC Becker DM Becker JD Starmer MA Province, Genet Epidemiol 2009 34 1 100 105
31. R: A language and environment for statistical computing. R Development Core Team, R Foundation for Statistical Computing 2009