Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

D. pulex.

<p><i>D</i>. <i>pulex</i> were exposed to ethylene blue for 15 min, rinsed thoroughly, and imaged using a Maximum Intensity Projection Z Plane Stack (10x, Leica SP5 Scanning Laser Confocal Microscope). The intensity image presented here was used as proof of concept during the characterization of ethylene blue.</p

<i>D</i>. <i>pulex</i> survival with vitamin D₃.

<p><i>D</i>. <i>pulex</i> (N = 12) exposed to acute UV-A in the presence of vitamin D₃. Blue line = 0 mg D₃; Black line = 5 mg D₃; Red line = 10 mg D₃. No reproduction was observed in any individuals during the experimental period. Error = standard error of the mean across 3 trials.</p

Synthetic route for the preparation of fluorescently labeled vitamin D₃.

<p>The carbodiimidazole (CDI) coupling of vitamin D₃ and the fluorescent dye linker.</p

D. pulex.

<p><i>D</i>. <i>pulex</i> were exposed to ethylene blue for 15 min, rinsed thoroughly, and imaged using a Maximum Intensity Projection Z Plane Stack (10x, Leica SP5 Scanning Laser Confocal Microscope). The intensity image presented here was used as proof of concept during the characterization of ethylene blue.</p

UV-Stressed <i>Daphnia pulex</i> Increase Fitness through Uptake of Vitamin D₃

<div><p>Ultraviolet radiation is known to be highly variable in aquatic ecosystems. It has been suggested that UV-exposed organisms may demonstrate enough phenotypic plasticity to maintain the relative fitness of natural populations. Our long-term objective is to determine the potential photoprotective effect of vitamin D₃ on <i>Daphnia pulex</i> exposed to acute or chronic UV radiation. Herein we report our initial findings in this endeavor. <i>D</i>. <i>pulex</i> survival and reproduction (fitness) was monitored for 5 d as a proof of concept study. Significantly higher fitness was observed in the <i>D</i>. <i>pulex</i> with D₃ than those without (most extreme effects observed were 0% survival in the absence of D₃ and 100% with 10 ppm D₃). Vitamin D₃ was isolated from the culture media, the algal food (<i>Pseudokirchneriella</i>), and the <i>D</i>. <i>pulex</i> and quantified using high performance liquid chromatography (HPLC). Vitamin D₃ was fluorescently labeled using a phenothiazinium dye and added to cultures of <i>D</i>. <i>pulex</i>. Images demonstrating the uptake of D₃ into the tissues and carapace of the <i>D</i>. <i>pulex</i> were acquired. Our initial findings suggest a positive role for D₃ in ecosystems as both UV-stressed algae and <i>Daphnia</i> sequester D₃, and <i>D</i>. <i>pulex</i> demonstrate increased fitness in the presence of D₃.</p></div

Tracking vitamin D₃ in <i>D</i>. <i>pulex</i>.

<p>(A) A live <i>D</i>. <i>pulex</i> was placed in a 1:10 solution of ethylene blue, with no vitamin D₃ (“control”) and images were captured 30 min post exposure (10x, Leica SP5 Scanning Laser Confocal Microscope). Note the presence of the dye in the gut tract (red stain). (B). Live <i>D</i>. <i>pulex</i> were placed in a 1:10 solution of ethylene blue linked vitamin D₃, rinsed thoroughly, and images were captured 120 min post exposure (10x). Image was compiled from a 90-min time lapse to capture sequestration of vitamin D₃ (red) into the tissues of the <i>D</i>. <i>pulex</i> from the intestine. The high intensity red “dots” in the image are concentrated dye on the outside of the carapace that was not removed during the rinsing stages. The yellow circle indicates a region where D₃ sequestration was detected.</p

Science goals and mission architecture of the Europa Lander mission concept

© The Author(s), 2022. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Hand, K., Phillips, C., Murray, A., Garvin, J., Maize, E., Gibbs, R., Reeves, G., San Martin, A., Tan-Wang, G., Krajewski, J., Hurst, K., Crum, R., Kennedy, B., McElrath, T., Gallon, J., Sabahi, D., Thurman, S., Goldstein, B., Estabrook, P., Lee, S. W., Dooley, J. A., Brinckerhoff, W. B., Edgett, K. S., German, C. R., Hoehler, T. M., Hörst, S. M., Lunine, J. I., Paranicas, C., Nealson, K., Smith, D. E., Templeton, A. S., Russell, M. J., Schmidt, B., Christner, B., Ehlmann, B., Hayes, A., Rhoden, A., Willis, P., Yingst, R. A., Craft, K., Cameron, M. E., Nordheim, T., Pitesky, J., Scully, J., Hofgartner, J., Sell, S. W., Barltrop, K. J., Izraelevitz, J., Brandon, E. J., Seong, J., Jones, J.-P., Pasalic, J., Billings, K. J., Ruiz, J. P., Bugga, R. V., Graham, D., Arenas, L. A., Takeyama, D., Drummond, M., Aghazarian, H., Andersen, A. J., Andersen, K. B., Anderson, E. W., Babuscia, A., Backes, P. G., Bailey, E. S., Balentine, D., Ballard, C. G., Berisford, D. F., Bhandari, P., Blackwood, K., Bolotin, G. S., Bovre, E. A., Bowkett, J., Boykins, K. T., Bramble, M. S., Brice, T. M., Briggs, P., Brinkman, A. P., Brooks, S. M., Buffington, B. B., Burns, B., Cable, M. L., Campagnola, S., Cangahuala, L. A., Carr, G. A., Casani, J. R., Chahat, N. E., Chamberlain-Simon, B. K., Cheng, Y., Chien, S. A., Cook, B. T., Cooper, M., DiNicola, M., Clement, B., Dean, Z., Cullimore, E. A., Curtis, A. G., Croix, J-P. de la, Pasquale, P. Di, Dodd, E. M., Dubord, L. A., Edlund, J. A., Ellyin, R., Emanuel, B., Foster, J. T., Ganino, A. J., Garner, G. J., Gibson, M. T., Gildner, M., Glazebrook, K. J., Greco, M. E., Green, W. M., Hatch, S. J., Hetzel, M. M., Hoey, W. A., Hofmann, A. E., Ionasescu, R., Jain, A., Jasper, J. D., Johannesen, J. R., Johnson, G. K., Jun, I., Katake, A. B., Kim-Castet, S. Y., Kim, D. I., Kim, W., Klonicki, E. F., Kobeissi, B., Kobie, B. D., Kochocki, J., Kokorowski, M., Kosberg, J. A., Kriechbaum, K., Kulkarni, T. P., Lam, R. L., Landau, D. F., Lattimore, M. A., Laubach, S. L., Lawler, C. R., Lim, G., Lin, J. Y., Litwin, T. E., Lo, M. W., Logan, C. A., Maghasoudi, E., Mandrake, L., Marchetti, Y., Marteau, E., Maxwell, K. A., Namee, J. B. Mc, Mcintyre, O., Meacham, M., Melko, J. P., Mueller, J., Muliere, D. A., Mysore, A., Nash, J., Ono, H., Parker, J. M., Perkins, R. C., Petropoulos, A. E., Gaut, A., Gomez, M. Y. Piette, Casillas, R. P., Preudhomme, M., Pyrzak, G., Rapinchuk, J., Ratliff, J. M., Ray, T. L., Roberts, E. T., Roffo, K., Roth, D. C., Russino, J. A., Schmidt, T. M., Schoppers, M. J., Senent, J. S., Serricchio, F., Sheldon, D. J., Shiraishi, L. R., Shirvanian, J., Siegel, K. J., Singh, G., Sirota, A. R., Skulsky, E. D., Stehly, J. S., Strange, N. J., Stevens, S. U., Sunada, E. T., Tepsuporn, S. P., Tosi, L. P. C., Trawny, N., Uchenik, I., Verma, V., Volpe, R. A., Wagner, C. T., Wang, D., Willson, R. G., Wolff, J. L., Wong, A. T., Zimmer, A. K., Sukhatme, K. G., Bago, K. A., Chen, Y., Deardorff, A. M., Kuch, R. S., Lim, C., Syvertson, M. L., Arakaki, G. A., Avila, A., DeBruin, K. J., Frick, A., Harris, J. R., Heverly, M. C., Kawata, J. M., Kim, S.-K., Kipp, D. M., Murphy, J., Smith, M. W., Spaulding, M. D., Thakker, R., Warner, N. Z., Yahnker, C. R., Young, M. E., Magner, T., Adams, D., Bedini, P., Mehr, L., Sheldon, C., Vernon, S., Bailey, V., Briere, M., Butler, M., Davis, A., Ensor, S., Gannon, M., Haapala-Chalk, A., Hartka, T., Holdridge, M., Hong, A., Hunt, J., Iskow, J., Kahler, F., Murray, K., Napolillo, D., Norkus, M., Pfisterer, R., Porter, J., Roth, D., Schwartz, P., Wolfarth, L., Cardiff, E. H., Davis, A., Grob, E. W., Adam, J. R., Betts, E., Norwood, J., Heller, M. M., Voskuilen, T., Sakievich, P., Gray, L., Hansen, D. J., Irick, K. W., Hewson, J. C., Lamb, J., Stacy, S. C., Brotherton, C. M., Tappan, A. S., Benally, D., Thigpen, H., Ortiz, E., Sandoval, D., Ison, A. M., Warren, M., Stromberg, P. G., Thelen, P. M., Blasy, B., Nandy, P., Haddad, A. W., Trujillo, L. B., Wiseley, T. H., Bell, S. A., Teske, N. P., Post, C., Torres-Castro, L., Grosso, C. Wasiolek, M. Science goals and mission architecture of the Europa Lander mission concept. The Planetary Science Journal, 3(1), (2022): 22, https://doi.org/10.3847/psj/ac4493.Europa is a premier target for advancing both planetary science and astrobiology, as well as for opening a new window into the burgeoning field of comparative oceanography. The potentially habitable subsurface ocean of Europa may harbor life, and the globally young and comparatively thin ice shell of Europa may contain biosignatures that are readily accessible to a surface lander. Europa's icy shell also offers the opportunity to study tectonics and geologic cycles across a range of mechanisms and compositions. Here we detail the goals and mission architecture of the Europa Lander mission concept, as developed from 2015 through 2020. The science was developed by the 2016 Europa Lander Science Definition Team (SDT), and the mission architecture was developed by the preproject engineering team, in close collaboration with the SDT. In 2017 and 2018, the mission concept passed its mission concept review and delta-mission concept review, respectively. Since that time, the preproject has been advancing the technologies, and developing the hardware and software, needed to retire risks associated with technology, science, cost, and schedule.K.P.H., C.B.P., E.M., and all authors affiliated with the Jet Propulsion Laboratory carried out this research at the Jet Propulsion Laboratory, California Institute of Technology, under a contract with the National Aeronautics and Space Administration (grant No. 80NM0018D0004). J.I.L. was the David Baltimore Distinguished Visiting Scientist during the preparation of the SDT report. JPL/Caltech2021