Post List

All posts; Tags Include "Genetics"

(Modify Search »)

  • April 24, 2017
  • 04:22 AM
  • 57 views

Promising mouse model for Ngly1 deficiency

by adam phillips in It Ain't Magic

A recent study of Ngly1 deficient mice used a secondary knockout to create double knockouts with symptoms similar to human NGLY1 deficiency.... Read more »

  • April 20, 2017
  • 05:19 AM
  • 115 views

DHM attenuates obesity-induced slow-twitch-fiber decrease via FLCN/FNIP1/AMPK pathway

by Joana Guedes in BHD Research Blog

Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and insulin sensitivity in skeletal muscle using high-fat-diet-induced (HFD) obese mice, ob/ob mutant mice, an........ Read more »

  • April 7, 2017
  • 06:22 AM
  • 203 views

Novel FLCN mutations in Chinese patients

by Joana Guedes in BHD Research Blog

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation of the encoded protein folliculin. FLCN consists of 14 exons spanning a........ Read more »

  • April 4, 2017
  • 06:00 PM
  • 137 views

New rice fights off drought

by adam phillips in It Ain't Magic

Researchers have created drought resistant transgenic rice using a gene from a small Eurasian flowering plant.... Read more »

  • March 31, 2017
  • 12:10 PM
  • 247 views

Giving the underserved the care they deserve

by Aurametrix team in Aurametrix Blog

Nobody likes strong smells coming from other human beings. It's just that social convention: you are nice, if you smell nice, and you are a monster  - like Shakespeare's Caliban - if you smell bad. ​Caliban, often depicted as a Golumn-like creature, is one of the first cases of fish odor syndrome described in the literature. No amount of soap and water would help him to wash the smell away, as his body is constantly producing a pungent small molecule trimethylamine. ... Read more »

Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF.... (2017) Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 18(1), 11. PMID: 28196478  

Callewaert C, Lambert J, & Van de Wiele T. (2016) Towards a bacterial treatment for armpit malodour. Experimental dermatology. PMID: 27892611  

  • March 24, 2017
  • 07:58 AM
  • 186 views

Ammonium regulates mTOR signalling

by Joana Guedes in BHD Research Blog

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance of glutamine as a tumour nutrient is recognized, little is known about the potential effects of ammonium produc........ Read more »

  • March 15, 2017
  • 08:30 AM
  • 251 views

CHL1 Hypermethylation in Breast Cancer

by Esperanza Martín Sánchez in EpiBeat

Breast cancer (BC) is the most common cancer among women and one of the leading causes of cancer-related deaths worldwide (1-3). It is a clinically heterogeneous disease, with at least 5 different subtypes (4) and quite variable prognosis, even within a subtype. In spite of early detection programmes, unfortunately 20-30% of early stage cases will eventually experience recurrence and develop distant metastasis. However, currently, there is no acceptable method for monitoring patients who are lik........ Read more »

Martín-Sánchez E, Mendaza S, Ulazia-Garmendia A, Monreal-Santesteban I, Blanco-Luquin I, Córdoba A, Vicente-García F, Pérez-Janices N, Escors D, Megías D.... (2017) CHL1 hypermethylation as a potential biomarker of poor prognosis in breast cancer. Oncotarget. PMID: 28178655  

Stefansson OA, Moran S, Gomez A, Sayols S, Arribas-Jorba C, Sandoval J, Hilmarsdottir H, Olafsdottir E, Tryggvadottir L, Jonasson JG.... (2015) A DNA methylation-based definition of biologically distinct breast cancer subtypes. Molecular oncology, 9(3), 555-68. PMID: 25468711  

He LH, Ma Q, Shi YH, Ge J, Zhao HM, Li SF, & Tong ZS. (2013) CHL1 is involved in human breast tumorigenesis and progression. Biochemical and biophysical research communications, 438(2), 433-8. PMID: 23906755  

Smith RA, Andrews K, Brooks D, DeSantis CE, Fedewa SA, Lortet-Tieulent J, Manassaram-Baptiste D, Brawley OW, & Wender RC. (2016) Cancer screening in the United States, 2016: A review of current American Cancer Society guidelines and current issues in cancer screening. CA: a cancer journal for clinicians, 66(2), 96-114. PMID: 26797525  

Feng W, Shen L, Wen S, Rosen DG, Jelinek J, Hu X, Huan S, Huang M, Liu J, Sahin AA.... (2007) Correlation between CpG methylation profiles and hormone receptor status in breast cancers. Breast cancer research : BCR, 9(4). PMID: 17764565  

Karsli-Ceppioglu S, Dagdemir A, Judes G, Ngollo M, Penault-Llorca F, Pajon A, Bignon YJ, & Bernard-Gallon D. (2014) Epigenetic mechanisms of breast cancer: an update of the current knowledge. Epigenomics, 6(6), 651-64. PMID: 25531258  

Widschwendter M, Siegmund KD, Müller HM, Fiegl H, Marth C, Müller-Holzner E, Jones PA, & Laird PW. (2004) Association of breast cancer DNA methylation profiles with hormone receptor status and response to tamoxifen. Cancer research, 64(11), 3807-13. PMID: 15172987  

Senchenko VN, Krasnov GS, Dmitriev AA, Kudryavtseva AV, Anedchenko EA, Braga EA, Pronina IV, Kondratieva TT, Ivanov SV, Zabarovsky ER.... (2011) Differential expression of CHL1 gene during development of major human cancers. PloS one, 6(3). PMID: 21408220  

  • March 10, 2017
  • 06:05 AM
  • 230 views

Spontaneous Pneumothorax and air travel in BHD Syndrome

by Joana Guedes in BHD Research Blog

Previous studies show that BHD syndrome causes spontaneous pneumothorax (SP) in 24-38% of patients, with a recurrence rate of up to 75% (Toro et al., 2007; Toro et al., 2008; Houweling et al., 2011). A common preventative strategy used following an initial SP in patients with BHD is pleurodesis, however, its efficacy in preventing recurrent episodes is not well known. Due to the pressure changes during air travel, cystic air spaces expand and compress in the thorax possibly leading to cyst ruptu........ Read more »

Gupta N, Kopras EJ, Henske EP, James LE, El-Chemaly S, Veeraraghavan S, Drake MG, & McCormack FX. (2017) Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Annals of the American Thoracic Society. PMID: 28248571  

  • March 8, 2017
  • 08:30 AM
  • 239 views

Epigenetic Predisposition to Radiation Fibrosis

by Christoph Weigel in EpiBeat

Radiotherapy is a highly efficient treatment for many cancers including breast cancer. Intraoperative radiotherapy (IORT), a relatively new type of radiation therapy, has proven successful as a curative treatment for early cancer stages. However, in spite of great improvements in dose delivery and imaging technology, unwanted exposure of healthy tissue to radiation cannot be fully avoided. The resulting late-onset toxicity due to the exposure of health tissue currently limits the usefulness of r........ Read more »

Weigel C, Veldwijk MR, Oakes CC, Seibold P, Slynko A, Liesenfeld DB, Rabionet M, Hanke SA, Wenz F, Sperk E.... (2016) Epigenetic regulation of diacylglycerol kinase alpha promotes radiation-induced fibrosis. Nature communications, 10893. PMID: 26964756  

  • March 3, 2017
  • 05:14 AM
  • 181 views

Rare Disease Day – Findacure Scientific Conference: Drug Repurposing for Rare Diseases

by Joana Guedes in BHD Research Blog

This year’s Findacure Scientific Conference took place in London on Rare Disease Day and was again focused on Drug Repurposing for Rare Diseases. The conference brought together over 100 representatives from patient groups, researchers and members of the healthcare industry to discuss the importance and the latest developments in drug repurposing for rare diseases.... Read more »

  • March 1, 2017
  • 08:00 AM
  • 209 views

Transient Imprinting of Genes in the Human Placenta

by Marta Sanchez Delgado in EpiBeat

When the fertilization occurs, the maternal and paternal pronuclei have thousands of opposite methylated regions. Most of this germline methylation are resolved during the postfertilization epigenetic reprogramming by active mechanism for the sperm-derived methylated regions and depending on DNA replication for the oocyte-derived ones. There is a subset of regions that are known to avoid this demethylation: the imprinted differentially methylated regions (DMRs). The imprinted DMRs are in general........ Read more »

Sanchez-Delgado M, Court F, Vidal E, Medrano J, Monteagudo-Sánchez A, Martin-Trujillo A, Tayama C, Iglesias-Platas I, Kondova I, Bontrop R.... (2016) Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting. PLoS genetics, 12(11). PMID: 27835649  

Smallwood SA, & Kelsey G. (2012) De novo DNA methylation: a germ cell perspective. Trends in genetics : TIG, 28(1), 33-42. PMID: 22019337  

Smith ZD, Chan MM, Humm KC, Karnik R, Mekhoubad S, Regev A, Eggan K, & Meissner A. (2014) DNA methylation dynamics of the human preimplantation embryo. Nature, 511(7511), 611-5. PMID: 25079558  

Barbaux S, Gascoin-Lachambre G, Buffat C, Monnier P, Mondon F, Tonanny MB, Pinard A, Auer J, Bessières B, Barlier A.... (2012) A genome-wide approach reveals novel imprinted genes expressed in the human placenta. Epigenetics, 7(9), 1079-90. PMID: 22894909  

Hanna CW, Peñaherrera MS, Saadeh H, Andrews S, McFadden DE, Kelsey G, & Robinson WP. (2016) Pervasive polymorphic imprinted methylation in the human placenta. Genome research, 26(6), 756-67. PMID: 26769960  

  • February 21, 2017
  • 09:00 PM
  • 243 views

Redrawing Ratite Relationships

by Jente Ottenburghs in Evolutionary Stories

Scientists have sequenced the DNA of two extinct birds: the moa and the elephantbird. Comparison with their living relatives led to some surprising findings.... Read more »

Maderspacher F. (2017) Evolution: Flight of the Ratites. Current biology : CB, 27(3). PMID: 28171755  

Yonezawa T, Segawa T, Mori H, Campos PF, Hongoh Y, Endo H, Akiyoshi A, Kohno N, Nishida S, Wu J.... (2017) Phylogenomics and Morphology of Extinct Paleognaths Reveal the Origin and Evolution of the Ratites. Current biology : CB, 27(1), 68-77. PMID: 27989673  

  • February 10, 2017
  • 07:19 AM
  • 278 views

BHD in patients undergoing chest CT and characteristics of BHD in Korea.

by Joana Guedes in BHD Research Blog

To date, there have been no prospective studies attempting to diagnose BHD syndrome or literature reviews on BHD in Korea. Park et al. (2017) address this in their new study that aims to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to classify the characteristics of BHD in Korea.... Read more »

  • February 8, 2017
  • 05:36 AM
  • 290 views

Sex, alcohol, and structural variants in fission yeast

by Christophe Dessimoz in Open Reading Frame

Our latest study just came out (Jeffares et al., Nature Comm 2017). In it, we carefully catalogued high-confidence structural variants among all known strains of the fission yeast population, and assessed their impact on spore viability, winemaking and other traits. This post gives a summary and the story behind the paper.

Structural variants (SVs) measure genetic variation beyond single nucleotide changes …

Next generation sequencing is enabling the study of genomic diversity on unprec........ Read more »

Jeffares, D., Jolly, C., Hoti, M., Speed, D., Shaw, L., Rallis, C., Balloux, F., Dessimoz, C., Bähler, J., & Sedlazeck, F. (2017) Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast. Nature Communications, 14061. DOI: 10.1038/ncomms14061  

Jeffares, D., Rallis, C., Rieux, A., Speed, D., Převorovský, M., Mourier, T., Marsellach, F., Iqbal, Z., Lau, W., Cheng, T.... (2015) The genomic and phenotypic diversity of Schizosaccharomyces pombe. Nature Genetics, 47(3), 235-241. DOI: 10.1038/ng.3215  

  • January 27, 2017
  • 05:13 AM
  • 520 views

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

by Joana Guedes in BHD Research Blog

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins and Hsp90 in 47 sporadic ccRCCs and corresponding normal tissues.... Read more »

  • January 25, 2017
  • 08:00 AM
  • 286 views

Asthma & Histone Acetylation: an important epigenetic mechanism in allergic diseases

by Daniel Potaczek in EpiBeat

Epigenetic regulation is thought to be one of the most important mechanisms contributing to the development and clinical course of chronic immunological diseases like allergies and asthma. DNA methylation has been extensively studied in this context, which has not been a case of histone modifications such as histone acetylation or methylation.

Early epigenetic studies from our lab conducted in mouse models demonstrated a role for histone acetylation in mediating bacteria-induced protection ag........ Read more »

Harb H, Alashkar Alhamwe B, Garn H, Renz H, & Potaczek DP. (2016) Recent developments in epigenetics of pediatric asthma. Current opinion in pediatrics, 28(6), 754-763. PMID: 27662207  

Harb, H., Amarasekera, M., Ashley, S., Tulic, M., Pfefferle, P., Potaczek, D., Martino, D., Kesper, D., Prescott, S., & Renz, H. (2016) Epigenetic Regulation in Early Childhood: A Miniaturized and Validated Method to Assess Histone Acetylation. International Archives of Allergy and Immunology, 168(3), 173-181. DOI: 10.1159/000442158  

Harb, H., Raedler, D., Ballenberger, N., Böck, A., Kesper, D., Renz, H., & Schaub, B. (2015) Childhood allergic asthma is associated with increased IL-13 and FOXP3 histone acetylation. Journal of Allergy and Clinical Immunology, 136(1), 200-202. DOI: 10.1016/j.jaci.2015.01.027  

Stefanowicz, D., Lee, J., Lee, K., Shaheen, F., Koo, H., Booth, S., Knight, D., & Hackett, T. (2015) Elevated H3K18 acetylation in airway epithelial cells of asthmatic subjects. Respiratory Research, 16(1). DOI: 10.1186/s12931-015-0254-y  

Harb, H., & Renz, H. (2015) Update on epigenetics in allergic disease. Journal of Allergy and Clinical Immunology, 135(1), 15-24. DOI: 10.1016/j.jaci.2014.11.009  

  • January 20, 2017
  • 05:19 AM
  • 330 views

RCC: Updates on Guidelines for Adjuvant Therapy and new drug combination

by Joana Guedes in BHD Research Blog

The European Association of Urology (EAU) Renal Cell Carcinoma (RCC) guidelines panel has recently updated its recommendation on adjuvant therapy with sunitinib in non-metastatic RCC after surgical tumour removal (Bex et al., 2016). These clinical guidelines provide urologists with evidence-based information and recommendations for the management of RCC and the panel includes urological surgeons, oncologists, pathologists, radiologists and patient advocates. Based on the conflicting results of t........ Read more »

  • January 13, 2017
  • 05:11 AM
  • 330 views

Nutrient-dependent FNIP degradation regulates FLCN localization and promotes renal cancer progression

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé (BHD) syndrome is a rare disorder caused by mutations in FLCN and associated with increased risk of kidney cancer. It has been shown that FLCN-interacting protein 1 and 2 (FNIP1 and FNIP2) double knockout mice, like the FLCN knockout mice, develop renal carcinoma (Hasumi et al., 2015). However, the molecular mechanisms linking FNIP and FLCN remain unknown. In their new study, Nagashima et al. (2016) show that FNIP2 undergoes proteasome-dependent degradation via β-TRCP ........ Read more »

  • January 11, 2017
  • 08:00 AM
  • 429 views

DNA Methylation in the Placenta: accelerated aging in pregnancy complications

by Tina Bianco-Miotto in EpiBeat

The placenta is a unique organ as it is an extra-embryonic tissue primarily regulated by the fetal genome and shared between mother and fetus. However, it is a transient organ that is only needed throughout pregnancy and gestation and then is discarded after delivery. The essential role of the placenta in pregnancy is unquestionable but, surprisingly, as highlighted by the NIH NICHD Human Placenta Project (https://www.nichd.nih.gov/research/HPP/Pages/default.aspx), it is the human organ we know ........ Read more »

Bianco-Miotto T, Mayne BT, Buckberry S, Breen J, Rodriguez Lopez CM, & Roberts CT. (2016) Recent progress towards understanding the role of DNA methylation in human placental development. Reproduction (Cambridge, England), 152(1). PMID: 27026712  

Ehrlich M, Gama-Sosa MA, Huang LH, Midgett RM, Kuo KC, McCune RA, & Gehrke C. (1982) Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Nucleic acids research, 10(8), 2709-21. PMID: 7079182  

Fuke C, Shimabukuro M, Petronis A, Sugimoto J, Oda T, Miura K, Miyazaki T, Ogura C, Okazaki Y, & Jinno Y. (2004) Age related changes in 5-methylcytosine content in human peripheral leukocytes and placentas: an HPLC-based study. Annals of human genetics, 68(Pt 3), 196-204. PMID: 15180700  

Schroeder DI, Blair JD, Lott P, Yu HO, Hong D, Crary F, Ashwood P, Walker C, Korf I, Robinson WP.... (2013) The human placenta methylome. Proceedings of the National Academy of Sciences of the United States of America, 110(15), 6037-42. PMID: 23530188  

Robinson WP, & Price EM. (2015) The human placental methylome. Cold Spring Harbor perspectives in medicine, 5(5). PMID: 25722473  

Marioni RE, Shah S, McRae AF, Chen BH, Colicino E, Harris SE, Gibson J, Henders AK, Redmond P, Cox SR.... (2015) DNA methylation age of blood predicts all-cause mortality in later life. Genome biology, 25. PMID: 25633388  

  • January 9, 2017
  • 04:48 AM
  • 307 views

H255Y and K508R missense mutations in FLCN promote kidney neoplasia

by Joana Guedes in BHD Research Blog

The germline FLCN missense mutations H255Y (Hasumi et al., 2009) and K508R (Toro et al., 2008) have been identified in patients with bilateral multifocal (BMF) kidney tumours and other clinical symptoms of Birt-Hogg-Dube (BHD) syndrome, or with BMF kidney tumours as the only manifestation. Building on their previous work identifying the H255Y mutation in human BHD kidney tumour, Hasumi et al. (2016) investigated whether these mutations have an impact on FLCN function. The authors evaluated the F........ Read more »

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.

Register Now

Research Blogging is powered by SRI Technology.

To learn more, visit http://selfregulationinstitute.org/.