All posts; Tags Include "Genetics"
- October 14, 2016
- 11:50 AM
- 54 views
Pathways to Substance Use and Abuse
by William Yates, M.D. in Brain Posts
Neuroscience medicine clinicians encounter patients every day who have both a mental and substance use disorder.This co-occurrence, or comorbidity, complicates diagnosis, treatment and outcome.The exact mechanism for this comorbidity issue is unclear.A recent study out of Washington University in St. Louis and King's College London provides some insight into this comorbidity issue.They examined participants in the Study of Addiction: Genetics and Environment (SAGE). These subjects provided genet........ Read more »
Carey CE, Agrawal A, Bucholz KK, Hartz SM, Lynskey MT, Nelson EC, Bierut LJ, & Bogdan R. (2016) Associations between Polygenic Risk for Psychiatric Disorders and Substance Involvement. Frontiers in genetics, 149. PMID: 27574527
- October 5, 2016
- 09:06 AM
- 143 views
Of microbes and men: Evolving as one and terraforming earth
by gdw in FictionalFieldwork
Me and my microbes In the past decade or so, the microbiota, the community of microbes that makes its home in the guts of humans and other animals, has become quite a popular research topic. Quite rightly so, since our little guests seem to affect aspects of our lives that we wouldn’t necessarily consider to […]... Read more »
Faria VG, Martins NE, Magalhães S, Paulo TF, Nolte V, Schlötterer C, Sucena É, & Teixeira L. (2016) Drosophila Adaptation to Viral Infection through Defensive Symbiont Evolution. PLoS genetics, 12(9). PMID: 27684942
Solé RV, Montañez R, & Duran-Nebreda S. (2015) Synthetic circuit designs for earth terraformation. Biology direct, 37. PMID: 26187273
- September 30, 2016
- 06:12 AM
- 160 views
BHD at the International Rare Lung Diseases Research Conference 2016
by Joana Guedes in BHD Research Blog
The International Rare Lung Diseases Research Conference (RLDC) and LAM symposium were held last week over four days. They brought together clinicians, scientists, patients and families to Cincinnati to review research developments in rare lung disease and to promote dialogue between the research community and patients. Next week’s blog will focus on the highlights of the entire conference. This week the blog is focused on the BHD syndrome specific talk and poster.... Read more »
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B.... (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American journal of respiratory and critical care medicine, 175(10), 1044-53. PMID: 17322109
- September 29, 2016
- 11:25 PM
- 165 views
Locating social memories in the brain
by adam phillips in It Ain't Magic
Scientists have identified that social memories are stored in the vetral CA1 region of the brain (in mice). After meeting a mouse and forgetting it, the memories can be reactivated optogenetically, indicating that they exist, but cannot be retrieved after time passes... Read more »
Okuyama, T., Kitamura, T., Roy, D., Itohara, S., & Tonegawa, S. (2016) Ventral CA1 neurons store social memory. Science, 353(6307), 1536-1541. DOI: 10.1126/science.aaf7003
- September 28, 2016
- 11:10 AM
- 135 views
When the writing is wrong: PRMT5 histone arginine methylation promotes invasivity and metastasis in a range of human cancers
by David Schecter in EpiBeat
Cancer metastasis occurs when cancer cells leave a primary tumor and invade other tissues. Generally, this leads to a poor prognosis for patients. Underlying epigenetic mechanisms of tumor progression are poorly understood but are of great interest for developing new approaches of treatment in the clinic. Cancer etiology is highly correlated with alterations in the histone code1-5 and protein methyltransferases are frequently dysregulated in cancer, implicating them as compelling novel targets f........ Read more »
Chen H, Lorton B, Gupta V, & Shechter D. (2016) A TGFβ-PRMT5-MEP50 axis regulates cancer cell invasion through histone H3 and H4 arginine methylation coupled transcriptional activation and repression. Oncogene. PMID: 27270440
Chi P, Allis CD, & Wang GG. (2010) Covalent histone modifications--miswritten, misinterpreted and mis-erased in human cancers. Nature reviews. Cancer, 10(7), 457-69. PMID: 20574448
Sawan, Carla. (2010) Histone Modifications and Cancer. Adv Genet, 57-85. DOI: 10.1016/B978-0-12-380866-0.60003-4
Stopa N, Krebs JE, & Shechter D. (2015) The PRMT5 arginine methyltransferase: many roles in development, cancer and beyond. Cellular and molecular life sciences : CMLS, 72(11), 2041-59. PMID: 25662273
Cha B, & Jho EH. (2012) Protein arginine methyltransferases (PRMTs) as therapeutic targets. Expert opinion on therapeutic targets, 16(7), 651-64. PMID: 22621686
Sebova K, & Fridrichova I. (2010) Epigenetic tools in potential anticancer therapy. Anti-cancer drugs, 21(6), 565-77. PMID: 20436342
Yang, Y., & Bedford, M. (2012) Protein arginine methyltransferases and cancer. Nature Reviews Cancer, 13(1), 37-50. DOI: 10.1038/nrc3409
Yang XJ, & Seto E. (2008) Lysine acetylation: codified crosstalk with other posttranslational modifications. Molecular cell, 31(4), 449-61. PMID: 18722172
Greenblatt SM, Liu F, & Nimer SD. (2016) Arginine methyltransferases in normal and malignant hematopoiesis. Experimental hematology, 44(6), 435-41. PMID: 27026282
Wilczek C, Chitta R, Woo E, Shabanowitz J, Chait BT, Hunt DF, & Shechter D. (2011) Protein arginine methyltransferase Prmt5-Mep50 methylates histones H2A and H4 and the histone chaperone nucleoplasmin in Xenopus laevis eggs. The Journal of biological chemistry, 286(49), 42221-31. PMID: 22009756
Ho MC, Wilczek C, Bonanno JB, Xing L, Seznec J, Matsui T, Carter LG, Onikubo T, Kumar PR, Chan MK.... (2013) Structure of the arginine methyltransferase PRMT5-MEP50 reveals a mechanism for substrate specificity. PloS one, 8(2). PMID: 23451136
Burgos ES, Wilczek C, Onikubo T, Bonanno JB, Jansong J, Reimer U, & Shechter D. (2015) Histone H2A and H4 N-terminal tails are positioned by the MEP50 WD repeat protein for efficient methylation by the PRMT5 arginine methyltransferase. The Journal of biological chemistry, 290(15), 9674-89. PMID: 25713080
Chan-Penebre E, Kuplast KG, Majer CR, Boriack-Sjodin PA, Wigle TJ, Johnston LD, Rioux N, Munchhof MJ, Jin L, Jacques SL.... (2015) A selective inhibitor of PRMT5 with in vivo and in vitro potency in MCL models. Nature chemical biology, 11(6), 432-7. PMID: 25915199
Liu F, Cheng G, Hamard PJ, Greenblatt S, Wang L, Man N, Perna F, Xu H, Tadi M, Luciani L.... (2015) Arginine methyltransferase PRMT5 is essential for sustaining normal adult hematopoiesis. The Journal of clinical investigation, 125(9), 3532-44. PMID: 26258414
Ikushima H, & Miyazono K. (2010) TGFbeta signalling: a complex web in cancer progression. Nature reviews. Cancer, 10(6), 415-24. PMID: 20495575
Lamouille, S., Xu, J., & Derynck, R. (2014) Molecular mechanisms of epithelial–mesenchymal transition. Nature Reviews Molecular Cell Biology, 15(3), 178-196. DOI: 10.1038/nrm3758
- September 23, 2016
- 04:14 PM
- 172 views
PD-L1 expression associates with non-inactivated VHL ccRCC
by Joana Guedes in BHD Research Blog
The loss of the of the tumor suppressor gene VHL and the subsequent deregulation of VHL/HIF/VEGF signalling are known to play a role in development of clear cell renal cell carcinoma (ccRCC). Renal tumours associated with BHD syndrome are histologically diverse and include a percentage of ccRCC (Pavlovich et al., 2002). Anti-angiogenic therapies targeting the VHL/HIF/VEGF pathway have emerged in past years (Rini et al., 2006) but the development of resistance to these therapeutic agents is leadi........ Read more »
Kammerer-Jacquet SF, Crouzet L, Brunot A, Dagher J, Pladys A, Edeline J, Laguerre B, Peyronnet B, Mathieu R, Verhoest G.... (2016) Independent association of PD-L1 expression with non-inactivated VHL clear cell renal cell carcinoma - a finding with therapeutic potential. International journal of cancer. PMID: 27623354
- September 22, 2016
- 09:27 AM
- 202 views
Will tardigrades get humanity into space?
by gdw in FictionalFieldwork
The mighty water bear Tardigrades, aka water bears, are tiny animals that can be found just about everywhere on earth, with a slight preference for the moisture in moss. They happily amble along on their four pairs of legs and slurp up plant cells, algae, and even smaller invertebrates that can’t get away fast enough […]... Read more »
Boothby TC, Tenlen JR, Smith FW, Wang JR, Patanella KA, Nishimura EO, Tintori SC, Li Q, Jones CD, Yandell M.... (2015) Evidence for extensive horizontal gene transfer from the draft genome of a tardigrade. Proceedings of the National Academy of Sciences of the United States of America, 112(52), 15976-81. PMID: 26598659
Koutsovoulos G, Kumar S, Laetsch DR, Stevens L, Daub J, Conlon C, Maroon H, Thomas F, Aboobaker AA, & Blaxter M. (2016) No evidence for extensive horizontal gene transfer in the genome of the tardigrade Hypsibius dujardini. Proceedings of the National Academy of Sciences of the United States of America, 113(18), 5053-8. PMID: 27035985
Hashimoto T, Horikawa DD, Saito Y, Kuwahara H, Kozuka-Hata H, Shin-I T, Minakuchi Y, Ohishi K, Motoyama A, Aizu T.... (2016) Extremotolerant tardigrade genome and improved radiotolerance of human cultured cells by tardigrade-unique protein. Nature communications, 12808. PMID: 27649274
- September 18, 2016
- 07:03 AM
- 216 views
5 Things We Learned This Week | Open-Access Science | Week 37, 2016
by TakFurTheKaffe in Tak Fur The Kaffe
New theories in ocean circulation and acidification, shorter sea ice season in polar bear habitats, and new tools to track bird migrations and hair protein analysis in forensic IDs. Here are five of the latest scientific studies published open-access this week.... Read more »
Klockmann, M., Mikolajewicz, U., & Marotzke, J. (2016) The effect of greenhouse gas concentrations and ice sheets on the glacial AMOC in a coupled climate model. Climate of the Past, 12(9), 1829-1846. DOI: 10.5194/cp-12-1829-2016
Sutton, A., Sabine, C., Feely, R., Cai, W., Cronin, M., McPhaden, M., Morell, J., Newton, J., Noh, J., Ólafsdóttir, S.... (2016) Using present-day observations to detect when anthropogenic change forces surface ocean carbonate chemistry outside preindustrial bounds. Biogeosciences, 13(17), 5065-5083. DOI: 10.5194/bg-13-5065-2016
Stern, H., & Laidre, K. (2016) Sea-ice indicators of polar bear habitat. The Cryosphere, 10(5), 2027-2041. DOI: 10.5194/tc-10-2027-2016
Shamoun-Baranes, J., Farnsworth, A., Aelterman, B., Alves, J., Azijn, K., Bernstein, G., Branco, S., Desmet, P., Dokter, A., Horton, K.... (2016) Innovative Visualizations Shed Light on Avian Nocturnal Migration. PLOS ONE, 11(8). DOI: 10.1371/journal.pone.0160106
Parker, G., Leppert, T., Anex, D., Hilmer, J., Matsunami, N., Baird, L., Stevens, J., Parsawar, K., Durbin-Johnson, B., Rocke, D.... (2016) Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome. PLOS ONE, 11(9). DOI: 10.1371/journal.pone.0160653
- September 16, 2016
- 05:01 AM
- 192 views
Air travel and diving possibly increase risk of pneumothorax in BHD patients
by Joana Guedes in BHD Research Blog
Birt–Hogg–Dubé syndrome is caused by germline mutations in the FLCN gene and characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax (SP) and renal cancer. Because sudden changes in air pressure can increase the chances of developing a collapsed lung, a concern many BHD patients have is whether it is safe to air travel and scuba dive, or whether this increases the chances of a pneumothorax. In a new study, Johannesma et al. (2016) evaluate the incidence ........ Read more »
Johannesma, P., van de Beek, I., van der Wel, J., Paul, M., Houweling, A., Jonker, M., van Waesberghe, J., Reinhard, R., Starink, T., van Moorselaar, R.... (2016) Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome. SpringerPlus, 5(1). DOI: 10.1186/s40064-016-3009-4
- September 14, 2016
- 08:00 AM
- 195 views
5-Formlycytosine (5fC): A new base?
by Eliza Bacon in EpiBeat
DNA methylation and hydroxymethylation are well-established key players in gene regulation. Although many would agree that 5hmC also plays a critical role, there is still some debate over whether it serves a functional role, or is merely an artifact of DNA de-methylation. Even still, other intermediates of de-methylation are actively being investigated. In a recent paper by Iuilaro et al. 2016, a group of scientists argue that 5-formlycytosine (5fC), an intermediate of DNA de-methylation, is a s........ Read more »
Iurlaro M, McInroy GR, Burgess HE, Dean W, Raiber EA, Bachman M, Beraldi D, Balasubramanian S, & Reik W. (2016) In vivo genome-wide profiling reveals a tissue-specific role for 5-formylcytosine. Genome biology, 17(1), 141. PMID: 27356509
- September 9, 2016
- 10:24 AM
- 242 views
C9orf72-SMCR8 complex, analogous to FLCN- FNIP, localizes to lysosomes and regulates mTORC1
by Joana Guedes in BHD Research Blog
The DENN protein module contains a longin domain, a DENN domain and a d-DENN domain. Nookala et al. (2012) identified a DENN module in folliculin (FLCN), the Birt-Hogg-Dube tumour suppressor. The DENN module is believed to be a GEF for Rab-GTPases, although FLCN is believed to act as a GAP for RagC (Tsun et al., 2013) as is its yeast homologue, LST7, in interaction with the yeast FNIP homologue Lst4 (Pacitto et al., 2015). A recent bioinformatic study identified DENN domains in several other ........ Read more »
Amick J, Roczniak-Ferguson A, & Ferguson SM. (2016) C9orf72 binds SMCR8, localizes to lysosomes and regulates mTORC1 signaling. Molecular biology of the cell. PMID: 27559131
- September 9, 2016
- 07:00 AM
- 220 views
Friday Fellow: Helicopter Damselfly
by Piter Boll in Earthling Nature
by Piter Kehoma Boll Damselflies are usually delicate versions of dragonflies, but some species challenge their place among the odonates. The most extreme example comes from the moist forests of Central and South America and is known as Megaloprepus caerulatus or … Continue reading →... Read more »
Feindt, W., Fincke, O., & Hadrys, H. (2013) Still a one species genus? Strong genetic diversification in the world’s largest living odonate, the Neotropical damselfly Megaloprepus caerulatus. Conservation Genetics, 15(2), 469-481. DOI: 10.1007/s10592-013-0554-z
- September 8, 2016
- 09:16 AM
- 243 views
CRISPR on my plate, and some GMO’s on the side
by gdw in FictionalFieldwork
A CRISPR recipe Less than a month ago, the world’s first official CRISPR/Cas9 meal was served. CRISPR/Cas9 is a fairly new technology to edit genomes, and cut and paste genes at will. Well, it’s not exactly that new. It’s actually been around for a long time. CRISPR, or *humhum* Clustered regularly interspaced short palindromic repeats […]... Read more »
Snell C, Bernheim A, Bergé JB, Kuntz M, Pascal G, Paris A, & Ricroch AE. (2012) Assessment of the health impact of GM plant diets in long-term and multigenerational animal feeding trials: a literature review. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association, 50(3-4), 1134-48. PMID: 22155268
Panchin AY, & Tuzhikov AI. (2016) Published GMO studies find no evidence of harm when corrected for multiple comparisons. Critical reviews in biotechnology, 1-5. PMID: 26767435
- September 2, 2016
- 07:28 AM
- 237 views
Mitochondrial function during muscle fiber type transition by a miR‐499/Fnip1/AMPK circuit
by Joana Guedes in BHD Research Blog
Contractile fiber type and mitochondrial function are two key factors of skeletal muscle function. However, the exact mechanism for coupling the two remains unknown. The genes encoding type I myosins Myh7/Myh7b regulate muscle fiber type switching by encoding their intronic miRNAs, miR-208b and miR-499. In a new study, Liu et al., 2016 use transgenic mice to show that miR-499 directly targets the gene encoding folliculin‐interacting protein‐1 (Fnip1), which negatively regulates AMPK. AMPK ........ Read more »
Liu J, Liang X, Zhou D, Lai L, Xiao L, Liu L, Fu T, Kong Y, Zhou Q, Vega RB.... (2016) Coupling of mitochondrial function and skeletal muscle fiber type by a miR-499/Fnip1/AMPK circuit. EMBO molecular medicine. PMID: 27506764
- September 1, 2016
- 10:19 AM
- 264 views
Responsible resurrection: The ecology of de-extinction
by gdw in FictionalFieldwork
March of the mammoths Improvements in our genetic tinkering capabilities have led several people to suggest potential uses for our newfound powers. Although we ought to add some nuance and note that those powers are still in development. In any case, one of those powers is quite impressive. De-extinction, or the process of bringing back […]... Read more »
Seddon PJ, Griffiths CJ, Soorae PS, & Armstrong DP. (2014) Reversing defaunation: restoring species in a changing world. Science, 345(6195), 406-12. PMID: 25061203
McCauley, D., Hardesty-Moore, M., Halpern, B., & Young, H. (2016) A mammoth undertaking: harnessing insight from functional ecology to shape de-extinction priority setting. Functional Ecology. DOI: 10.1111/1365-2435.12728
- August 31, 2016
- 10:58 AM
- 278 views
Why do we hate coriander?
by Alice Breda in la-Plumeria
In the morning you get up, trudge all the way to the sink, grab a bar of soap and rub it on your face. Sometimes, after you rinsed, you realize that some soap got into your mouth. The taste is nasty, pungent, more in your nose than on your tongue and it persists until you eat or drink something.
This sickening feeling doesn’t hit me only in my brightest mornings, but also every time in an ethnic restaurant or during a trip the cook decides to decorate my tacos or my curry with some chop........ Read more »
Eriksson, N., Wu, S., Do, C., Kiefer, A., Tung, J., Mountain, J., Hinds, D., & Francke, U. (2012) A genetic variant near olfactory receptor genes influences cilantro preference. Flavour, 1(1), 22. DOI: 10.1186/2044-7248-1-22
Callaway, E. (2012) Soapy taste of coriander linked to genetic variants. Nature. DOI: 10.1038/nature.2012.11398
- August 26, 2016
- 05:03 AM
- 253 views
A new Birt-Hogg-Dubé Syndrome review
by Joana Guedes in BHD Research Blog
Gupta et al. (2016b) recently published a review about Birt-Hogg-Dubé Syndrome (BHD) exploring the key points and research advances in genetics and pathogenesis, clinical manifestations, diagnosis and disease management.... Read more »
Gupta N, Sunwoo BY, & Kotloff RM. (2016) Birt-Hogg-Dubé Syndrome. Clinics in chest medicine, 37(3), 475-86. PMID: 27514594
- August 24, 2016
- 07:30 AM
- 281 views
Epigenetics of Early Pregnancy Loss: Hypomethylation and Genetic Instability May Contribute to Decreased Implantation Potential of Monosomy Blastocysts
by Blair McCallie in EpiBeat
Aneuploidy is the leading cause of miscarriage, stillbirth, and congenital birth defects and occurs as a result of errors during meiotic or mitotic cell division.1 As a woman ages, the probability of an aneuploid conception significantly rises, to roughly 50% by the age of 40.2 Only a fraction of full aneuploidies, primarily trisomies, will develop past the first trimester. This is in contrast to monosomies that almost never implant or result in an ongoing pregnancy. DNA methylation is an epi........ Read more »
McCallie BR, Parks JC, Patton AL, Griffin DK, Schoolcraft WB, & Katz-Jaffe MG. (2016) Hypomethylation and Genetic Instability in Monosomy Blastocysts May Contribute to Decreased Implantation Potential. PloS one, 11(7). PMID: 27434648
Hassold T, Hall H, & Hunt P. (2007) The origin of human aneuploidy: where we have been, where we are going. Human molecular genetics. PMID: 17911163
Grewal, S. (2003) Heterochromatin and Epigenetic Control of Gene Expression. Science, 301(5634), 798-802. DOI: 10.1126/science.1086887
Messerschmidt DM, Knowles BB, & Solter D. (2014) DNA methylation dynamics during epigenetic reprogramming in the germline and preimplantation embryos. Genes , 28(8), 812-28. PMID: 24736841
Kahlem, P. (2004) Transcript Level Alterations Reflect Gene Dosage Effects Across Multiple Tissues in a Mouse Model of Down Syndrome. Genome Research, 14(7), 1258-1267. DOI: 10.1101/gr.1951304
- August 21, 2016
- 03:00 AM
- 340 views
Brawn, Brain and Beauty
by Aurametrix team in Aurametrix Blog
In the future all humans will be tall and beautiful look-alikes, as in GATTACA. Or they will split into frail beauties and sturdy beasts, as described in H. G. Wells' The Time Machine. British evolutionary psychologist Oliver Curry and paleoanthropologist Matthew Skinner believe in the possibility of similar scenarios, based on either the rich and poor divide ("gracile" vs "robust" species) or climate change-related evolution (pale hairy giants vs aquatic and space humans). The change may b........ Read more »
Crabtree, G. (2013) Our fragile intellect. Part II. Trends in Genetics, 29(1), 3-5. DOI: 10.1016/j.tig.2012.10.003
Williams AG, Wackerhage H, & Day SH. (2016) Genetic Testing for Sports Performance, Responses to Training and Injury Risk: Practical and Ethical Considerations. Medicine and sport science, 105-19. PMID: 27287080
Dickenson, E., O'Connor, P., Robinson, P., Campbell, R., Ahmed, I., Fernandez, M., Hawkes, R., Charles, H., & Griffin, D. (2016) Hip morphology in elite golfers: asymmetry between lead and trail hips. British Journal of Sports Medicine, 50(17), 1081-1086. DOI: 10.1136/bjsports-2016-096007
- August 12, 2016
- 05:10 AM
- 276 views
Simulation study suggests that mutations induce conformational changes in FLCN - possible cause of Birt-Hogg-Dubé syndrome
by Joana Guedes in BHD Research Blog
Germline mutations of the folliculin gene are normally responsible for Birt–Hogg–Dubé (BHD) syndrome. The 3D structure of the C-terminal domain of folliculin (FLCN), folliculin-CT, has been previously determined (Nookala et al., 2012). FLCN is a tumor suppressor and a guanine nucleotide exchange factor (GEF) for Rab35. GEF activity of FLCN towards its GTPase might be essential for cellular processes. Most of the reported FLCN mutations lead to the BHD phenotype (Lim et al., 20........ Read more »
Verma S, Tyagi C, Goyal S, Pandey B, Jamal S, Singh A, & Grover A. (2016) Mutations induce conformational changes in folliculin C-terminal domain: possible cause of loss of guanine exchange factor activity and Birt-Hogg-Dubé syndrome. Journal of biomolecular structure , 1-6. PMID: 27484154
topics
join us!
Do you write about peer-reviewed research in your blog? Use ResearchBlogging.org to make it easy for your readers — and others from around the world — to find your serious posts about academic research.
If you don't have a blog, you can still use our site to learn about fascinating developments in cutting-edge research from around the world.
Research Blogging is powered by SMG Technology.
To learn more, visit seedmediagroup.com.