TY  - JOUR
A1  - Chipman, Ariel D.
A1  - Ferrier, David E. K.
A1  - Brena, Carlo
A1  - Qu, Jiaxin
A1  - Hughes, Daniel S. T.
A1  - Schroeder, Reinhard
A1  - Torres-Oliva, Montserrat
A1  - Znassi, Nadia
A1  - Jiang, Huaiyang
A1  - Almeida, Francisca C.
A1  - Alonso, Claudio R.
A1  - Apostolou, Zivkos
A1  - Aqrawi, Peshtewani
A1  - Arthur, Wallace
A1  - Barna, Jennifer C. J.
A1  - Blankenburg, Kerstin P.
A1  - Brites, Daniela
A1  - Capella-Gutierrez, Salvador
A1  - Coyle, Marcus
A1  - Dearden, Peter K.
A1  - Du Pasquier, Louis
A1  - Duncan, Elizabeth J.
A1  - Ebert, Dieter
A1  - Eibner, Cornelius
A1  - Erikson, Galina
A1  - Evans, Peter D.
A1  - Extavour, Cassandra G.
A1  - Francisco, Liezl
A1  - Gabaldon, Toni
A1  - Gillis, William J.
A1  - Goodwin-Horn, Elizabeth A.
A1  - Green, Jack E.
A1  - Griffiths-Jones, Sam
A1  - Grimmelikhuijzen, Cornelis J. P.
A1  - Gubbala, Sai
A1  - Guigo, Roderic
A1  - Han, Yi
A1  - Hauser, Frank
A1  - Havlak, Paul
A1  - Hayden, Luke
A1  - Helbing, Sophie
A1  - Holder, Michael
A1  - Hui, Jerome H. L.
A1  - Hunn, Julia P.
A1  - Hunnekuhl, Vera S.
A1  - Jackson, LaRonda
A1  - Javaid, Mehwish
A1  - Jhangiani, Shalini N.
A1  - Jiggins, Francis M.
A1  - Jones, Tamsin E.
A1  - Kaiser, Tobias S.
A1  - Kalra, Divya
A1  - Kenny, Nathan J.
A1  - Korchina, Viktoriya
A1  - Kovar, Christie L.
A1  - Kraus, F. Bernhard
A1  - Lapraz, Francois
A1  - Lee, Sandra L.
A1  - Lv, Jie
A1  - Mandapat, Christigale
A1  - Manning, Gerard
A1  - Mariotti, Marco
A1  - Mata, Robert
A1  - Mathew, Tittu
A1  - Neumann, Tobias
A1  - Newsham, Irene
A1  - Ngo, Dinh N.
A1  - Ninova, Maria
A1  - Okwuonu, Geoffrey
A1  - Ongeri, Fiona
A1  - Palmer, William J.
A1  - Patil, Shobha
A1  - Patraquim, Pedro
A1  - Pham, Christopher
A1  - Pu, Ling-Ling
A1  - Putman, Nicholas H.
A1  - Rabouille, Catherine
A1  - Ramos, Olivia Mendivil
A1  - Rhodes, Adelaide C.
A1  - Robertson, Helen E.
A1  - Robertson, Hugh M.
A1  - Ronshaugen, Matthew
A1  - Rozas, Julio
A1  - Saada, Nehad
A1  - Sanchez-Gracia, Alejandro
A1  - Scherer, Steven E.
A1  - Schurko, Andrew M.
A1  - Siggens, Kenneth W.
A1  - Simmons, DeNard
A1  - Stief, Anna
A1  - Stolle, Eckart
A1  - Telford, Maximilian J.
A1  - Tessmar-Raible, Kristin
A1  - Thornton, Rebecca
A1  - van der Zee, Maurijn
A1  - von Haeseler, Arndt
A1  - Williams, James M.
A1  - Willis, Judith H.
A1  - Wu, Yuanqing
A1  - Zou, Xiaoyan
A1  - Lawson, Daniel
A1  - Muzny, Donna M.
A1  - Worley, Kim C.
A1  - Gibbs, Richard A.
A1  - Akam, Michael
A1  - Richards, Stephen
T1  - The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima
JF  - PLoS biology
N2  - Myriapods (e. g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history.
Y1  - 2014
U6  - https://doi.org/10.1371/journal.pbio.1002005
SN  - 1545-7885
VL  - 12
IS  - 11
PB  - PLoS
CY  - San Fransisco
ER  - 
TY  - JOUR
A1  - Paragas, Erickson M.
A1  - Humphreys, Sara C.
A1  - Min, Joshua
A1  - Joswig-Jones, Carolyn A.
A1  - Leimkühler, Silke
A1  - Jones, Jeffrey P.
T1  - ecoAO
BT  - a simple system for the study of human aldehyde oxidases role in drug metabolism
JF  - ACS OMEGA
N2  - Although aldehyde oxidase (AO) is an important hepatic drug-metabolizing enzyme, it remains understudied and is consequently often overlooked in preclinical studies, an oversight that has resulted in the failure of multiple clinical trials. AO’s preclusion to investigation stems from the following: (1) difficulties synthesizing metabolic standards due to the chemospecificity and regiospecificity of the enzyme and (2) significant inherent variability across existing in vitro systems including liver cytosol, S9 fractions, and primary hepatocytes, which lack specificity and generate discordant expression and activity profiles. Here, we describe a practical bacterial biotransformation system, ecoAO, addressing both issues simultaneously. ecoAO is a cell paste of MoCo-producing Escherichia coli strain TP1017 expressing human AO. It exhibits specific activity toward known substrates, zoniporide, 4-trans-(N,N-dimethylamino)cinnamaldehyde, O6-benzylguanine, and zaleplon; it also has utility as a biocatalyst, yielding milligram quantities of synthetically challenging metabolite standards such as 2-oxo-zoniporide. Moreover, ecoAO enables routine determination of kcat and V/K, which are essential parameters for accurate in vivo clearance predictions. Furthermore, ecoAO has potential as a preclinical in vitro screening tool for AO activity, as demonstrated by its metabolism of 3-aminoquinoline, a previously uncharacterized substrate. ecoAO promises to provide easy access to metabolites with the potential to improve pharmacokinetic clearance predictions and guide drug development.
Y1  - 2017
U6  - https://doi.org/10.1021/acsomega.7b01054
SN  - 2470-1343
VL  - 2
SP  - 4820
EP  - 4827
PB  - American Chemical Society
CY  - Washington
ER  - 
TY  - JOUR
A1  - Warrington, Nicole
A1  - Beaumont, Robin
A1  - Horikoshi, Momoko
A1  - Day, Felix R.
A1  - Helgeland, Øyvind
A1  - Laurin, Charles
A1  - Bacelis, Jonas
A1  - Peng, Shouneng
A1  - Hao, Ke
A1  - Feenstra, Bjarke
A1  - Wood, Andrew R.
A1  - Mahajan, Anubha
A1  - Tyrrell, Jessica
A1  - Robertson, Neil R.
A1  - Rayner, N. William
A1  - Qiao, Zhen
A1  - Moen, Gunn-Helen
A1  - Vaudel, Marc
A1  - Marsit, Carmen
A1  - Chen, Jia
A1  - Nodzenski, Michael
A1  - Schnurr, Theresia M.
A1  - Zafarmand, Mohammad Hadi
A1  - Bradfield, Jonathan P.
A1  - Grarup, Niels
A1  - Kooijman, Marjolein N.
A1  - Li-Gao, Ruifang
A1  - Geller, Frank
A1  - Ahluwalia, Tarunveer Singh
A1  - Paternoster, Lavinia
A1  - Rueedi, Rico
A1  - Huikari, Ville
A1  - Hottenga, Jouke-Jan
A1  - Lyytikäinen, Leo-Pekka
A1  - Cavadino, Alana
A1  - Metrustry, Sarah
A1  - Cousminer, Diana L.
A1  - Wu, Ying
A1  - Thiering, Elisabeth Paula
A1  - Wang, Carol A.
A1  - Have, Christian Theil
A1  - Vilor-Tejedor, Natalia
A1  - Joshi, Peter K.
A1  - Painter, Jodie N.
A1  - Ntalla, Ioanna
A1  - Myhre, Ronny
A1  - Pitkänen, Niina
A1  - van Leeuwen, Elisabeth M.
A1  - Joro, Raimo
A1  - Lagou, Vasiliki
A1  - Richmond, Rebecca C.
A1  - Espinosa, Ana
A1  - Barton, Sheila J.
A1  - Inskip, Hazel M.
A1  - Holloway, John W.
A1  - Santa-Marina, Loreto
A1  - Estivill, Xavier
A1  - Ang, Wei
A1  - Marsh, Julie A.
A1  - Reichetzeder, Christoph
A1  - Marullo, Letizia
A1  - Hocher, Berthold
A1  - Lunetta, Kathryn L.
A1  - Murabito, Joanne M.
A1  - Relton, Caroline L.
A1  - Kogevinas, Manolis
A1  - Chatzi, Leda
A1  - Allard, Catherine
A1  - Bouchard, Luigi
A1  - Hivert, Marie-France
A1  - Zhang, Ge
A1  - Muglia, Louis J.
A1  - Heikkinen, Jani
A1  - Morgen, Camilla S.
A1  - van Kampen, Antoine H. C.
A1  - van Schaik, Barbera D. C.
A1  - Mentch, Frank D.
A1  - Langenberg, Claudia
A1  - Scott, Robert A.
A1  - Zhao, Jing Hua
A1  - Hemani, Gibran
A1  - Ring, Susan M.
A1  - Bennett, Amanda J.
A1  - Gaulton, Kyle J.
A1  - Fernandez-Tajes, Juan
A1  - van Zuydam, Natalie R.
A1  - Medina-Gomez, Carolina
A1  - de Haan, Hugoline G.
A1  - Rosendaal, Frits R.
A1  - Kutalik, Zoltán
A1  - Marques-Vidal, Pedro
A1  - Das, Shikta
A1  - Willemsen, Gonneke
A1  - Mbarek, Hamdi
A1  - Müller-Nurasyid, Martina
A1  - Standl, Marie
A1  - Appel, Emil V. R.
A1  - Fonvig, Cilius Esmann
A1  - Trier, Caecilie
A1  - van Beijsterveldt, Catharina E. M.
A1  - Murcia, Mario
A1  - Bustamante, Mariona
A1  - Bonàs-Guarch, Sílvia
A1  - Hougaard, David M.
A1  - Mercader, Josep M.
A1  - Linneberg, Allan
A1  - Schraut, Katharina E.
A1  - Lind, Penelope A.
A1  - Medland, Sarah Elizabeth
A1  - Shields, Beverley M.
A1  - Knight, Bridget A.
A1  - Chai, Jin-Fang
A1  - Panoutsopoulou, Kalliope
A1  - Bartels, Meike
A1  - Sánchez, Friman
A1  - Stokholm, Jakob
A1  - Torrents, David
A1  - Vinding, Rebecca K.
A1  - Willems, Sara M.
A1  - Atalay, Mustafa
A1  - Chawes, Bo L.
A1  - Kovacs, Peter
A1  - Prokopenko, Inga
A1  - Tuke, Marcus A.
A1  - Yaghootkar, Hanieh
A1  - Ruth, Katherine S.
A1  - Jones, Samuel E.
A1  - Loh, Po-Ru
A1  - Murray, Anna
A1  - Weedon, Michael N.
A1  - Tönjes, Anke
A1  - Stumvoll, Michael
A1  - Michaelsen, Kim Fleischer
A1  - Eloranta, Aino-Maija
A1  - Lakka, Timo A.
A1  - van Duijn, Cornelia M.
A1  - Kiess, Wieland
A1  - Koerner, Antje
A1  - Niinikoski, Harri
A1  - Pahkala, Katja
A1  - Raitakari, Olli T.
A1  - Jacobsson, Bo
A1  - Zeggini, Eleftheria
A1  - Dedoussis, George V.
A1  - Teo, Yik-Ying
A1  - Saw, Seang-Mei
A1  - Montgomery, Grant W.
A1  - Campbell, Harry
A1  - Wilson, James F.
A1  - Vrijkotte, Tanja G. M.
A1  - Vrijheid, Martine
A1  - de Geus, Eco J. C. N.
A1  - Hayes, M. Geoffrey
A1  - Kadarmideen, Haja N.
A1  - Holm, Jens-Christian
A1  - Beilin, Lawrence J.
A1  - Pennell, Craig E.
A1  - Heinrich, Joachim
A1  - Adair, Linda S.
A1  - Borja, Judith B.
A1  - Mohlke, Karen L.
A1  - Eriksson, Johan G.
A1  - Widen, Elisabeth E.
A1  - Hattersley, Andrew T.
A1  - Spector, Tim D.
A1  - Kaehoenen, Mika
A1  - Viikari, Jorma S.
A1  - Lehtimaeki, Terho
A1  - Boomsma, Dorret I.
A1  - Sebert, Sylvain
A1  - Vollenweider, Peter
A1  - Sorensen, Thorkild I. A.
A1  - Bisgaard, Hans
A1  - Bonnelykke, Klaus
A1  - Murray, Jeffrey C.
A1  - Melbye, Mads
A1  - Nohr, Ellen A.
A1  - Mook-Kanamori, Dennis O.
A1  - Rivadeneira, Fernando
A1  - Hofman, Albert
A1  - Felix, Janine F.
A1  - Jaddoe, Vincent W. V.
A1  - Hansen, Torben
A1  - Pisinger, Charlotta
A1  - Vaag, Allan A.
A1  - Pedersen, Oluf
A1  - Uitterlinden, Andre G.
A1  - Jarvelin, Marjo-Riitta
A1  - Power, Christine
A1  - Hypponen, Elina
A1  - Scholtens, Denise M.
A1  - Lowe, William L.
A1  - Smith, George Davey
A1  - Timpson, Nicholas J.
A1  - Morris, Andrew P.
A1  - Wareham, Nicholas J.
A1  - Hakonarson, Hakon
A1  - Grant, Struan F. A.
A1  - Frayling, Timothy M.
A1  - Lawlor, Debbie A.
A1  - Njolstad, Pal R.
A1  - Johansson, Stefan
A1  - Ong, Ken K.
A1  - McCarthy, Mark I.
A1  - Perry, John R. B.
A1  - Evans, David M.
A1  - Freathy, Rachel M.
T1  - Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
JF  - Nature genetics
N2  - Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Y1  - 2019
SN  - 1061-4036
SN  - 1546-1718
VL  - 51
IS  - 5
SP  - 804
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Beaumont, Robin N.
A1  - Warrington, Nicole M.
A1  - Cavadino, Alana
A1  - Tyrrell, Jessica
A1  - Nodzenski, Michael
A1  - Horikoshi, Momoko
A1  - Geller, Frank
A1  - Myhre, Ronny
A1  - Richmond, Rebecca C.
A1  - Paternoster, Lavinia
A1  - Bradfield, Jonathan P.
A1  - Kreiner-Moller, Eskil
A1  - Huikari, Ville
A1  - Metrustry, Sarah
A1  - Lunetta, Kathryn L.
A1  - Painter, Jodie N.
A1  - Hottenga, Jouke-Jan
A1  - Allard, Catherine
A1  - Barton, Sheila J.
A1  - Espinosa, Ana
A1  - Marsh, Julie A.
A1  - Potter, Catherine
A1  - Zhang, Ge
A1  - Ang, Wei
A1  - Berry, Diane J.
A1  - Bouchard, Luigi
A1  - Das, Shikta
A1  - Hakonarson, Hakon
A1  - Heikkinen, Jani
A1  - Helgeland, Oyvind
A1  - Hocher, Berthold
A1  - Hofman, Albert
A1  - Inskip, Hazel M.
A1  - Jones, Samuel E.
A1  - Kogevinas, Manolis
A1  - Lind, Penelope A.
A1  - Marullo, Letizia
A1  - Medland, Sarah E.
A1  - Murray, Anna
A1  - Murray, Jeffrey C.
A1  - Njolstad, Pal R.
A1  - Nohr, Ellen A.
A1  - Reichetzeder, Christoph
A1  - Ring, Susan M.
A1  - Ruth, Katherine S.
A1  - Santa-Marina, Loreto
A1  - Scholtens, Denise M.
A1  - Sebert, Sylvain
A1  - Sengpiel, Verena
A1  - Tuke, Marcus A.
A1  - Vaudel, Marc
A1  - Weedon, Michael N.
A1  - Willemsen, Gonneke
A1  - Wood, Andrew R.
A1  - Yaghootkar, Hanieh
A1  - Muglia, Louis J.
A1  - Bartels, Meike
A1  - Relton, Caroline L.
A1  - Pennell, Craig E.
A1  - Chatzi, Leda
A1  - Estivill, Xavier
A1  - Holloway, John W.
A1  - Boomsma, Dorret I.
A1  - Montgomery, Grant W.
A1  - Murabito, Joanne M.
A1  - Spector, Tim D.
A1  - Power, Christine
A1  - Jarvelin, Marjo-Ritta
A1  - Bisgaard, Hans
A1  - Grant, Struan F. A.
A1  - Sorensen, Thorkild I. A.
A1  - Jaddoe, Vincent W.
A1  - Jacobsson, Bo
A1  - Melbye, Mads
A1  - McCarthy, Mark I.
A1  - Hattersley, Andrew T.
A1  - Hayes, M. Geoffrey
A1  - Frayling, Timothy M.
A1  - Hivert, Marie-France
A1  - Felix, Janine F.
A1  - Hypponen, Elina
A1  - Lowe, William L.
A1  - Evans, David M.
A1  - Lawlor, Debbie A.
A1  - Feenstra, Bjarke
A1  - Freathy, Rachel M.
T1  - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
JF  - Human molecular genetics
N2  - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P< 5 x 10(-8). In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
Y1  - 2018
U6  - https://doi.org/10.1093/hmg/ddx429
SN  - 0964-6906
SN  - 1460-2083
VL  - 27
IS  - 4
SP  - 742
EP  - 756
PB  - Oxford Univ. Press
CY  - Oxford
ER  - 
TY  - GEN
A1  - Beaumont, Robin N.
A1  - Warrington, Nicole M.
A1  - Cavadino, Alana
A1  - Tyrrell, Jessica
A1  - Nodzenski, Michael
A1  - Horikoshi, Momoko
A1  - Geller, Frank
A1  - Myhre, Ronny
A1  - Richmond, Rebecca C.
A1  - Paternoster, Lavinia
A1  - Bradfield, Jonathan P.
A1  - Kreiner-Møller, Eskil
A1  - Huikari, Ville
A1  - Metrustry, Sarah
A1  - Lunetta, Kathryn L.
A1  - Painter, Jodie N.
A1  - Hottenga, Jouke-Jan
A1  - Allard, Catherine
A1  - Barton, Sheila J.
A1  - Espinosa, Ana
A1  - Marsh, Julie A.
A1  - Potter, Catherine
A1  - Zhang, Ge
A1  - Ang, Wei
A1  - Berry, Diane J.
A1  - Bouchard, Luigi
A1  - Das, Shikta
A1  - Hakonarson, Hakon
A1  - Heikkinen, Jani
A1  - Helgeland, Øyvind
A1  - Hocher, Berthold
A1  - Hofman, Albert
A1  - Inskip, Hazel M.
A1  - Jones, Samuel E.
A1  - Kogevinas, Manolis
A1  - Lind, Penelope A.
A1  - Marullo, Letizia
A1  - Medland, Sarah E.
A1  - Murray, Anna
A1  - Murray, Jeffrey C.
A1  - Njølstad, Pa ̊l R.
A1  - Nohr, Ellen A.
A1  - Reichetzeder, Christoph
A1  - Ring, Susan M.
A1  - Ruth, Katherine S.
A1  - Santa-Marina, Loreto
A1  - Scholtens, Denise M.
A1  - Sebert, Sylvain
A1  - Sengpiel, Verena
A1  - Tuke, Marcus A.
A1  - Vaudel, Marc
A1  - Weedon, Michael N.
A1  - Willemsen, Gonneke
A1  - Wood, Andrew R.
A1  - Yaghootkar, Hanieh
A1  - Muglia, Louis J.
A1  - Bartels, Meike
A1  - Relton, Caroline L.
A1  - Pennell, Craig E.
A1  - Chatzi, Leda
A1  - Estivill, Xavier
A1  - Holloway, John W.
A1  - Boomsma, Dorret I.
A1  - Montgomery, Grant W.
A1  - Murabito, Joanne M.
A1  - Spector, Tim D.
A1  - Power, Christine
A1  - Ja ̈rvelin, Marjo-Ritta
A1  - Bisgaard, Hans
A1  - Grant, Struan F.A.
A1  - Sørensen, Thorkild I.A.
A1  - Jaddoe, Vincent W.
A1  - Jacobsson, Bo
A1  - Melbye, Mads
A1  - McCarthy, Mark I.
A1  - Hattersley, Andrew T.
A1  - Hayes, M. Geoffrey
A1  - Frayling, Timothy M.
A1  - Hivert, Marie-France
A1  - Felix, Janine F.
A1  - Hyppo ̈nen, Elina
A1  - Lowe, William L. , Jr
A1  - Evans, David M.
A1  - Lawlor, Debbie A.
A1  - Feenstra, Bjarke
A1  - Freathy, Rachel M.
T1  - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
T2  - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe
N2  - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 Â 10 À8 . In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
T3  - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 628 
KW  - alleles
KW  - birth weight
KW  - fetus
KW  - genotype
KW  - mothers
KW  - single nucleotide polymorphism
KW  - genetics
KW  - duration of gestation
KW  - genome-wide association study
KW  - offspring
KW  - biobanks
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-423100
SN  - 1866-8372
IS  - 628
ER  - 
TY  - JOUR
A1  - Srama, Ralf
A1  - Krueger, H.
A1  - Yamaguchi, T.
A1  - Stephan, T.
A1  - Burchell, M.
A1  - Kearsley, A. T.
A1  - Sterken, V.
A1  - Postberg, F.
A1  - Kempf, S.
A1  - Grün, Eberhard
A1  - Altobelli, Nicolas
A1  - Ehrenfreund, P.
A1  - Dikarev, V.
A1  - Horanyi, M.
A1  - Sternovsky, Zoltan
A1  - Carpenter, J. D.
A1  - Westphal, A.
A1  - Gainsforth, Z.
A1  - Krabbe, A.
A1  - Agarwal, Jessica
A1  - Yano, H.
A1  - Blum, J.
A1  - Henkel, H.
A1  - Hillier, J.
A1  - Hoppe, P.
A1  - Trieloff, M.
A1  - Hsu, S.
A1  - Mocker, A.
A1  - Fiege, K.
A1  - Green, S. F.
A1  - Bischoff, A.
A1  - Esposito, F.
A1  - Laufer, R.
A1  - Hyde, T. W.
A1  - Herdrich, G.
A1  - Fasoulas, S.
A1  - Jaeckel, A.
A1  - Jones, G.
A1  - Jenniskens, P.
A1  - Khalisi, E.
A1  - Moragas-Klostermeyer, Georg
A1  - Spahn, Frank
A1  - Keller, H. U.
A1  - Frisch, P.
A1  - Levasseur-Regourd, A. C.
A1  - Pailer, N.
A1  - Altwegg, K.
A1  - Engrand, C.
A1  - Auer, S.
A1  - Silen, J.
A1  - Sasaki, S.
A1  - Kobayashi, M.
A1  - Schmidt, J.
A1  - Kissel, J.
A1  - Marty, B.
A1  - Michel, P.
A1  - Palumbo, P.
A1  - Vaisberg, O.
A1  - Baggaley, J.
A1  - Rotundi, A.
A1  - Roeser, H. P.
T1  - SARIM PLUS-sample return of comet 67P/CG and of interstellar matter
JF  - EXPERIMENTAL ASTRONOMY
N2  - The Stardust mission returned cometary, interplanetary and (probably) interstellar dust in 2006 to Earth that have been analysed in Earth laboratories worldwide. Results of this mission have changed our view and knowledge on the early solar nebula. The Rosetta mission is on its way to land on comet 67P/Churyumov-Gerasimenko and will investigate for the first time in great detail the comet nucleus and its environment starting in 2014. Additional astronomy and planetary space missions will further contribute to our understanding of dust generation, evolution and destruction in interstellar and interplanetary space and provide constraints on solar system formation and processes that led to the origin of life on Earth. One of these missions, SARIM-PLUS, will provide a unique perspective by measuring interplanetary and interstellar dust with high accuracy and sensitivity in our inner solar system between 1 and 2 AU. SARIM-PLUS employs latest in-situ techniques for a full characterisation of individual micrometeoroids (flux, mass, charge, trajectory, composition()) and collects and returns these samples to Earth for a detailed analysis. The opportunity to visit again the target comet of the Rosetta mission 67P/Churyumov-Gerasimeenternko, and to investigate its dusty environment six years after Rosetta with complementary methods is unique and strongly enhances and supports the scientific exploration of this target and the entire Rosetta mission. Launch opportunities are in 2020 with a backup window starting early 2026. The comet encounter occurs in September 2021 and the reentry takes place in early 2024. An encounter speed of 6 km/s ensures comparable results to the Stardust mission.
KW  - Interstellar dust
KW  - Cometary dust
KW  - Churyumov Gerasimenko
KW  - Interplanetary dust
KW  - IMF
KW  - Cosmic vision
KW  - Sample return
KW  - Dust collector
KW  - Mass spectrometry
Y1  - 2012
U6  - https://doi.org/10.1007/s10686-011-9285-7
SN  - 0922-6435
SN  - 1572-9508
VL  - 33
IS  - 2-3
SP  - 723
EP  - 751
PB  - SPRINGER
CY  - DORDRECHT
ER  - 
TY  - JOUR
A1  - Read, Betsy A.
A1  - Kegel, Jessica
A1  - Klute, Mary J.
A1  - Kuo, Alan
A1  - Lefebvre, Stephane C.
A1  - Maumus, Florian
A1  - Mayer, Christoph
A1  - Miller, John
A1  - Monier, Adam
A1  - Salamov, Asaf
A1  - Young, Jeremy
A1  - Aguilar, Maria
A1  - Claverie, Jean-Michel
A1  - Frickenhaus, Stephan
A1  - Gonzalez, Karina
A1  - Herman, Emily K.
A1  - Lin, Yao-Cheng
A1  - Napier, Johnathan
A1  - Ogata, Hiroyuki
A1  - Sarno, Analissa F.
A1  - Shmutz, Jeremy
A1  - Schroeder, Declan
A1  - de Vargas, Colomban
A1  - Verret, Frederic
A1  - von Dassow, Peter
A1  - Valentin, Klaus
A1  - Van de Peer, Yves
A1  - Wheeler, Glen
A1  - Dacks, Joel B.
A1  - Delwiche, Charles F.
A1  - Dyhrman, Sonya T.
A1  - Glöckner, Gernot
A1  - John, Uwe
A1  - Richards, Thomas
A1  - Worden, Alexandra Z.
A1  - Zhang, Xiaoyu
A1  - Grigoriev, Igor V.
A1  - Allen, Andrew E.
A1  - Bidle, Kay
A1  - Borodovsky, M.
A1  - Bowler, C.
A1  - Brownlee, Colin
A1  - Cock, J. Mark
A1  - Elias, Marek
A1  - Gladyshev, Vadim N.
A1  - Groth, Marco
A1  - Guda, Chittibabu
A1  - Hadaegh, Ahmad
A1  - Iglesias-Rodriguez, Maria Debora
A1  - Jenkins, J.
A1  - Jones, Bethan M.
A1  - Lawson, Tracy
A1  - Leese, Florian
A1  - Lindquist, Erika
A1  - Lobanov, Alexei
A1  - Lomsadze, Alexandre
A1  - Malik, Shehre-Banoo
A1  - Marsh, Mary E.
A1  - Mackinder, Luke
A1  - Mock, Thomas
A1  - Müller-Röber, Bernd
A1  - Pagarete, Antonio
A1  - Parker, Micaela
A1  - Probert, Ian
A1  - Quesneville, Hadi
A1  - Raines, Christine
A1  - Rensing, Stefan A.
A1  - Riano-Pachon, Diego Mauricio
A1  - Richier, Sophie
A1  - Rokitta, Sebastian
A1  - Shiraiwa, Yoshihiro
A1  - Soanes, Darren M.
A1  - van der Giezen, Mark
A1  - Wahlund, Thomas M.
A1  - Williams, Bryony
A1  - Wilson, Willie
A1  - Wolfe, Gordon
A1  - Wurch, Louie L.
T1  - Pan genome of the phytoplankton Emiliania underpins its global distribution
JF  - Nature : the international weekly journal of science
N2  - Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.
Y1  - 2013
U6  - https://doi.org/10.1038/nature12221
SN  - 0028-0836
SN  - 1476-4687
VL  - 499
IS  - 7457
SP  - 209
EP  - 213
PB  - Nature Publ. Group
CY  - London
ER  - 
TY  - JOUR
A1  - Jones, Benjamin M.
A1  - Arp, Christopher D.
A1  - Grosse, Guido
A1  - Nitze, Ingmar
A1  - Lara, Mark J.
A1  - Whitman, Matthew S.
A1  - Farquharson, Louise M.
A1  - Kanevskiy, Mikhail
A1  - Parsekian, Andrew D.
A1  - Breen, Amy L.
A1  - Ohara, Nori
A1  - Rangel, Rodrigo Correa
A1  - Hinkel, Kenneth M.
T1  - Identifying historical and future potential lake drainage events on the western Arctic coastal plain of Alaska
JF  - Permafrost and Periglacial Processes
N2  - Arctic lakes located in permafrost regions are susceptible to catastrophic drainage. In this study, we reconstructed historical lake drainage events on the western Arctic Coastal Plain of Alaska between 1955 and 2017 using USGS topographic maps, historical aerial photography (1955), and Landsat Imagery (ca. 1975, ca. 2000, and annually since 2000). We identified 98 lakes larger than 10 ha that partially (>25% of area) or completely drained during the 62-year period. Decadal-scale lake drainage rates progressively declined from 2.0 lakes/yr (1955-1975), to 1.6 lakes/yr (1975-2000), and to 1.2 lakes/yr (2000-2017) in the ~30,000-km(2) study area. Detailed Landsat trend analysis between 2000 and 2017 identified two years, 2004 and 2006, with a cluster (five or more) of lake drainages probably associated with bank overtopping or headward erosion. To identify future potential lake drainages, we combined the historical lake drainage observations with a geospatial dataset describing lake elevation, hydrologic connectivity, and adjacent lake margin topographic gradients developed with a 5-m-resolution digital surface model. We identified ~1900 lakes likely to be prone to drainage in the future. Of the 20 lakes that drained in the most recent study period, 85% were identified in this future lake drainage potential dataset. Our assessment of historical lake drainage magnitude, mechanisms and pathways, and identification of potential future lake drainages provides insights into how arctic lowland landscapes may change and evolve in the coming decades to centuries.
KW  - Arctic lakes
KW  - drained lake basins
KW  - lake drainage
KW  - permafrost regions
KW  - thermokarst lakes
Y1  - 2020
U6  - https://doi.org/10.1002/ppp.2038
VL  - 31
IS  - 1
SP  - 110
EP  - 127
PB  - Wiley
CY  - New York
ER  - 
TY  - GEN
A1  - Jones, Benjamin M.
A1  - Arp, Christopher D.
A1  - Grosse, Guido
A1  - Nitze, Ingmar
A1  - Lara, Mark J.
A1  - Whitman, Matthew S.
A1  - Farquharson, Louise M.
A1  - Kanevskiy, Mikhail
A1  - Parsekian, Andrew D.
A1  - Breen, Amy L.
A1  - Ohara, Nori
A1  - Rangel, Rodrigo Correa
A1  - Hinkel, Kenneth M.
T1  - Identifying historical and future potential lake drainage events on the western Arctic coastal plain of Alaska
T2  - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe
N2  - Arctic lakes located in permafrost regions are susceptible to catastrophic drainage. In this study, we reconstructed historical lake drainage events on the western Arctic Coastal Plain of Alaska between 1955 and 2017 using USGS topographic maps, historical aerial photography (1955), and Landsat Imagery (ca. 1975, ca. 2000, and annually since 2000). We identified 98 lakes larger than 10 ha that partially (>25% of area) or completely drained during the 62-year period. Decadal-scale lake drainage rates progressively declined from 2.0 lakes/yr (1955-1975), to 1.6 lakes/yr (1975-2000), and to 1.2 lakes/yr (2000-2017) in the ~30,000-km(2) study area. Detailed Landsat trend analysis between 2000 and 2017 identified two years, 2004 and 2006, with a cluster (five or more) of lake drainages probably associated with bank overtopping or headward erosion. To identify future potential lake drainages, we combined the historical lake drainage observations with a geospatial dataset describing lake elevation, hydrologic connectivity, and adjacent lake margin topographic gradients developed with a 5-m-resolution digital surface model. We identified ~1900 lakes likely to be prone to drainage in the future. Of the 20 lakes that drained in the most recent study period, 85% were identified in this future lake drainage potential dataset. Our assessment of historical lake drainage magnitude, mechanisms and pathways, and identification of potential future lake drainages provides insights into how arctic lowland landscapes may change and evolve in the coming decades to centuries.
T3  - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1376 
KW  - Arctic lakes
KW  - drained lake basins
KW  - lake drainage
KW  - permafrost regions
KW  - thermokarst lakes
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-610435
SN  - 1866-8372
IS  - 1
ER  - 
TY  - JOUR
A1  - Jones, Benjamin M.
A1  - Grosse, Guido
A1  - Farquharson, Louise M.
A1  - Roy-Léveillée, Pascale
A1  - Veremeeva, Alexandra
A1  - Kanevskiy, Mikhail Z.
A1  - Gaglioti, Benjamin
A1  - Breen, Amy L.
A1  - Parsekian, Andrew D.
A1  - Ulrich, Mathias
A1  - Hinkel, Kenneth M.
T1  - Lake and drained lake basin systems in lowland permafrost regions
JF  - Nature reviews earth and environment
N2  - The formation, growth and drainage of lakes in Arctic and boreal lowland permafrost regions influence landscape and ecosystem processes. These lake and drained lake basin (L-DLB) systems occupy >20% of the circumpolar Northern Hemisphere permafrost region and similar to 50% of the area below 300 m above sea level. Climate change is causing drastic impacts to L-DLB systems, with implications for permafrost dynamics, ecosystem functioning, biogeochemical processes and human livelihoods in lowland permafrost regions. In this Review, we discuss how an increase in the number of lakes as a result of permafrost thaw and an intensifying hydrologic regime are not currently offsetting the land area gained through lake drainage, enhancing the dominance of drained lake basins (DLBs).The contemporary transition from lakes to DLBs decreases hydrologic storage, leads to permafrost aggradation, increases carbon sequestration and diversifies the shifting habitat mosaic in Arctic and boreal regions. However, further warming could inhibit permafrost aggradation in DLBs, disrupting the trajectory of important microtopographic controls on carbon fluxes and ecosystem processes in permafrost-region L-DLB systems. Further research is needed to understand the future dynamics of L-DLB systems to improve Earth system models, permafrost carbon feedback assessments, permafrost hydrology linkages, infrastructure development in permafrost regions and the well-being of northern socio-ecological systems.
Y1  - 2022
U6  - https://doi.org/10.1038/s43017-021-00238-9
SN  - 2662-138X
VL  - 3
IS  - 1
SP  - 85
EP  - 98
PB  - Springer Nature
CY  - London
ER  -