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See detailA ring system detected around the Centaur (10199) Chariklo
Braga-Ribas; Sicardy; Ortiz et al

in Nature (2014)

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See detailIce-sheet mass balance and climate change
Hanna, E.; Navarro, F.; Pattyn, F. et al

in Nature (2013), 498

Since the 2007 Intergovernmental Panel on Climate Change Fourth Assessment Report, new observations of ice-sheet mass balance and improved computer simulations of ice-sheet response to continuing climate ... [more ▼]

Since the 2007 Intergovernmental Panel on Climate Change Fourth Assessment Report, new observations of ice-sheet mass balance and improved computer simulations of ice-sheet response to continuing climate change have been published. Whereas Greenland is losing ice mass at an increasing pace, current Antarctic ice loss is likely to be less than some recently published estimates. It remains unclear whether East Antarctica has been gaining or losing ice mass over the past 20 years, and uncertainties in ice-mass change for West Antarctica and the Antarctic Peninsula remain large. We discuss the past six years of progress and examine the key problems that remain. [less ▲]

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See detailGarrouste et al. reply
Garrouste, Romain; Clément, Gaël; Nel, Patricia et al

in Nature (2013), 488

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See detailMechanism of Trypanosoma brucei gambiense resistance to human serum.
Uzureau, Pierrick; Uzureau, Sophie; Lecordier, Laurence et al

in Nature (2013), 501(7467), 430-4

The African parasite Trypanosoma brucei gambiense accounts for 97% of human sleeping sickness cases. T. b. gambiense resists the specific human innate immunity acting against several other tsetse-fly ... [more ▼]

The African parasite Trypanosoma brucei gambiense accounts for 97% of human sleeping sickness cases. T. b. gambiense resists the specific human innate immunity acting against several other tsetse-fly-transmitted trypanosome species such as T. b. brucei, the causative agent of nagana disease in cattle. Human immunity to some African trypanosomes is due to two serum complexes designated trypanolytic factors (TLF-1 and -2), which both contain haptoglobin-related protein (HPR) and apolipoprotein LI (APOL1). Whereas HPR association with haemoglobin (Hb) allows TLF-1 binding and uptake via the trypanosome receptor TbHpHbR (ref. 5), TLF-2 enters trypanosomes independently of TbHpHbR (refs 4, 5). APOL1 kills trypanosomes after insertion into endosomal/lysosomal membranes. Here we report that T. b. gambiense resists TLFs via a hydrophobic beta-sheet of the T. b. gambiense-specific glycoprotein (TgsGP), which prevents APOL1 toxicity and induces stiffening of membranes upon interaction with lipids. Two additional features contribute to resistance to TLFs: reduction of sensitivity to APOL1 requiring cysteine protease activity, and TbHpHbR inactivation due to a L210S substitution. According to such a multifactorial defence mechanism, transgenic expression of T. b. brucei TbHpHbR in T. b. gambiense did not cause parasite lysis in normal human serum. However, these transgenic parasites were killed in hypohaptoglobinaemic serum, after high TLF-1 uptake in the absence of haptoglobin (Hp) that competes for Hb and receptor binding. TbHpHbR inactivation preventing high APOL1 loading in hypohaptoglobinaemic serum may have evolved because of the overlapping endemic area of T. b. gambiense infection and malaria, the main cause of haemolysis-induced hypohaptoglobinaemia in western and central Africa. [less ▲]

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See detailThe African coelacanth genome provides insights into tetrapod evolution.
Amemiya, Chris T.; Alfoldi, Jessica; Lee, Alison P. et al

in Nature (2013), 496(7445), 311-6

The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably ... [more ▼]

The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and its evolutionary proximity to our own fish ancestors provides a glimpse of the fish that first walked on land. Here we report the genome sequence of the African coelacanth, Latimeria chalumnae. Through a phylogenomic analysis, we conclude that the lungfish, and not the coelacanth, is the closest living relative of tetrapods. Coelacanth protein-coding genes are significantly more slowly evolving than those of tetrapods, unlike other genomic features. Analyses of changes in genes and regulatory elements during the vertebrate adaptation to land highlight genes involved in immunity, nitrogen excretion and the development of fins, tail, ear, eye, brain and olfaction. Functional assays of enhancers involved in the fin-to-limb transition and in the emergence of extra-embryonic tissues show the importance of the coelacanth genome as a blueprint for understanding tetrapod evolution. [less ▲]

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See detailGenomic evidence for ameiotic evolution in the bdelloid rotifer Adineta vaga.
Flot, Jean-Francois; Hespeels, Boris; Li, Xiang et al

in Nature (2013), 500(7463), 453-7

Loss of sexual reproduction is considered an evolutionary dead end for metazoans, but bdelloid rotifers challenge this view as they appear to have persisted asexually for millions of years. Neither male ... [more ▼]

Loss of sexual reproduction is considered an evolutionary dead end for metazoans, but bdelloid rotifers challenge this view as they appear to have persisted asexually for millions of years. Neither male sex organs nor meiosis have ever been observed in these microscopic animals: oocytes are formed through mitotic divisions, with no reduction of chromosome number and no indication of chromosome pairing. However, current evidence does not exclude that they may engage in sex on rare, cryptic occasions. Here we report the genome of a bdelloid rotifer, Adineta vaga (Davis, 1873), and show that its structure is incompatible with conventional meiosis. At gene scale, the genome of A. vaga is tetraploid and comprises both anciently duplicated segments and less divergent allelic regions. However, in contrast to sexual species, the allelic regions are rearranged and sometimes even found on the same chromosome. Such structure does not allow meiotic pairing; instead, we find abundant evidence of gene conversion, which may limit the accumulation of deleterious mutations in the absence of meiosis. Gene families involved in resistance to oxidation, carbohydrate metabolism and defence against transposons are significantly expanded, which may explain why transposable elements cover only 3% of the assembled sequence. Furthermore, 8% of the genes are likely to be of non-metazoan origin and were probably acquired horizontally. This apparent convergence between bdelloids and prokaryotes sheds new light on the evolutionary significance of sex. [less ▲]

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See detailGreenland ice-sheet contribution to sea-level rise buffered by meltwater storage in firn
Harper, J.; Humphrey, N.; Pfeffer, W. et al

in Nature (2012), 491

Surface melt on the Greenland ice sheet has shown increasing trends in areal extent and duration since the beginning of the satellite era. Records for melt were broken in 2005, 2007, 2010 and 2012. Much ... [more ▼]

Surface melt on the Greenland ice sheet has shown increasing trends in areal extent and duration since the beginning of the satellite era. Records for melt were broken in 2005, 2007, 2010 and 2012. Much of the increased surface melt is occurring in the percolation zone, a region of the accumulation area that is perennially covered by snow and firn (partly compacted snow). The fate of melt water in the percolation zone is poorly constrained: some may travel away from its point of origin and eventually influence the ice sheet’s flow dynamics and mass balance and the global sea level, whereas some may simply infiltrate into cold snow or firn and refreeze with none of these effects. Here we quantify the existing water storage capacity of the percolation zone of the Greenland ice sheet and show the potential for hundreds of gigatonnes of meltwater storage. We collected in situ observations of firn structure and meltwater retention along a roughly 85-kilometre-long transect of the melting accumulation area. Our data show that repeated infiltration events in which melt water penetrates deeply (more than 10 metres) eventually fill all pore space with water. As future surface melt intensifies under Arctic warming, a fraction of melt water that would otherwise contribute to sea-level rise will fill existing pore space of the percolation zone. We estimate the lower and upper bounds of this storage sink to be 322 ± 44 gigatonnes and 1.289 gigatonnes, respectively. Furthermore, we find that decades are required to fill this pore space under a range of plausible future climate conditions. Hence, routing of surface melt water into filling the pore space of the firn column will delay expansion of the area contributing to sea-level rise, although once the pore space is filled it cannot quickly be regenerated. [less ▲]

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See detailAlbedo and atmospheric constraints of dwarf planet Makemake from a stellar occultation
Ortiz, J. L.; Sicardy, B.; Braga-Ribas, F. et al

in Nature (2012), 491

Pluto and Eris are icy dwarf planets with nearly identical sizes, comparable densities and similar surface compositions as revealed by spectroscopic studies. Pluto possesses an atmosphere whereas Eris ... [more ▼]

Pluto and Eris are icy dwarf planets with nearly identical sizes, comparable densities and similar surface compositions as revealed by spectroscopic studies. Pluto possesses an atmosphere whereas Eris does not; the difference probably arises from their differing distances from the Sun, and explains their different albedos. Makemake is another icy dwarf planet with a spectrum similar to Eris and Pluto, and is currently at a distance to the Sun intermediate between the two. Although Makemake's size (1,420+/-60km) and albedo are roughly known, there has been no constraint on its density and there were expectations that it could have a Pluto-like atmosphere. Here we report the results from a stellar occultation by Makemake on 2011 April 23. Our preferred solution that fits the occultation chords corresponds to a body with projected axes of 1,430+/-9km (1σ) and 1,502+/-45km, implying a V-band geometric albedo p[SUB]V[/SUB] = 0.77+/-0.03. This albedo is larger than that of Pluto, but smaller than that of Eris. The disappearances and reappearances of the star were abrupt, showing that Makemake has no global Pluto-like atmosphere at an upper limit of 4-12nanobar (1σ) for the surface pressure, although a localized atmosphere is possible. A density of 1.7+/-0.3gcm[SUP]-3[/SUP] is inferred from the data. [less ▲]

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See detailHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins, Luke; Ripke, Stephan; Weersma, Rinse K. et al

in Nature (2012), 491(7422), 119-24

Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations. Genome ... [more ▼]

Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations. Genome-wide association studies and subsequent meta-analyses of these two diseases as separate phenotypes have implicated previously unsuspected mechanisms, such as autophagy, in their pathogenesis and showed that some IBD loci are shared with other inflammatory diseases. Here we expand on the knowledge of relevant pathways by undertaking a meta-analysis of Crohn's disease and ulcerative colitis genome-wide association scans, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. We identify 71 new associations, for a total of 163 IBD loci, that meet genome-wide significance thresholds. Most loci contribute to both phenotypes, and both directional (consistently favouring one allele over the course of human history) and balancing (favouring the retention of both alleles within populations) selection effects are evident. Many IBD loci are also implicated in other immune-mediated disorders, most notably with ankylosing spondylitis and psoriasis. We also observe considerable overlap between susceptibility loci for IBD and mycobacterial infection. Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD. [less ▲]

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See detaila complete insect from the Late Devonian period - supplementary information
Garrouste, Romain; Clément, Gaël; Nel, Patricia et al

in Nature (2012)

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See detailA complete insect from the Late Devonian period
Garrouste, Romain; Clément, Gaël; Nel, Patricial et al

in Nature (2012), 488

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See detailFood safety body is bound to draw fire
Hendrickx, Kim ULg; Penders, Bart

in Nature (2012), 485(31 May 2012), 582

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See detailDBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation
Close, Pierre ULg; East, Phil; Svejstrup, Barbara et al

in Nature (2012)

Alternative messenger RNA splicing is the main reason that vast mammalian proteomic complexity can be achieved with a limited number of genes. Splicing is physically and functionally coupled to ... [more ▼]

Alternative messenger RNA splicing is the main reason that vast mammalian proteomic complexity can be achieved with a limited number of genes. Splicing is physically and functionally coupled to transcription, and is greatly affected by the rate of transcript elongation1–3. As the nascent pre-mRNA emerges from transcribing RNA polymerase II (RNAPII), it is assembled into a messenger ribonucleoprotein (mRNP) particle; this is the functional form of the nascent pre-mRNA and determines the fate of the mature transcript4. However, factors that connect the transcribing polymerase with the mRNP particle and help to integrate transcript elongation with mRNA splicing remain unclear. Here we characterize the human interactome of chromatin-associated mRNP particles. This led us to identify deleted in breast cancer 1 (DBC1) and ZNF326 (which we call ZNF-protein interacting with nuclear mRNPs and DBC1 (ZIRD)) as subunits of a novel protein complex—named DBIRD—that binds directly to RNAPII. DBIRD regulates alternative splicing of a large set of exons embedded in (A 1 T)-rich DNA, and is present at the affected exons. RNAinterference- mediated DBIRD depletion results in region-specific decreases in transcript elongation, particularly across areas encompassing affected exons. Together, these data indicate that the DBIRD complex acts at the interface between mRNP particles and RNAPII, integrating transcript elongation with the regulation of alternative splicing. [less ▲]

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See detailSerial translocation by means of circular intermediates underlies colour sidedness in cattle.
Durkin, Keith ULg; Coppieters, Wouter ULg; Drogemuller, Cord et al

in Nature (2012), 482(7383), 81-4

Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips. It is also referred to as 'lineback' or 'witrik ... [more ▼]

Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips. It is also referred to as 'lineback' or 'witrik' (which means white back), as colour-sided animals typically display a white band along their spine. Colour sidedness is documented at least since the Middle Ages and is presently segregating in several cattle breeds around the globe, including in Belgian blue and brown Swiss. Here we report that colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism. [less ▲]

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See detailFast core rotation in red-giant stars as revealed by gravity-dominated mixed modes
Beck, Paul G; Montalban Iglesias, Josefa ULg; Kallinger, Thomas et al

in Nature (2012), 481

When the core hydrogen is exhausted during stellar evolution, the central region of a star contracts and the outer envelope expands and cools, giving rise to a red giant. Convection takes place over much ... [more ▼]

When the core hydrogen is exhausted during stellar evolution, the central region of a star contracts and the outer envelope expands and cools, giving rise to a red giant. Convection takes place over much of the star's radius. Conservation of angular momentum requires that the cores of these stars rotate faster than their envelopes; indirect evidence supports this. Information about the angular-momentum distribution is inaccessible to direct observations, but it can be extracted from the effect of rotation on oscillation modes that probe the stellar interior. Here we report an increasing rotation rate from the surface of the star to the stellar core in the interiors of red giants, obtained using the rotational frequency splitting of recently detected `mixed modes'. By comparison with theoretical stellar models, we conclude that the core must rotate at least ten times faster than the surface. This observational result confirms the theoretical prediction of a steep gradient in the rotation profile towards the deep stellar interior. [less ▲]

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See detailA compact system of small planets around a former red giant star
Charpinet, Stéphane; Fontaine, Gilles; Brassard, Pierre et al

in Nature (2011), 480

Planets that orbit their parent star at less than about one astronomical unit (1AU is the Earth-Sun distance) are expected to be engulfed when the star becomes a red giant. Previous observations have ... [more ▼]

Planets that orbit their parent star at less than about one astronomical unit (1AU is the Earth-Sun distance) are expected to be engulfed when the star becomes a red giant. Previous observations have revealed the existence of post-red-giant host stars with giant planets orbiting as close as 0.116AU or with brown dwarf companions in tight orbits, showing that these bodies can survive engulfment. What has remained unclear is whether planets can be dragged deeper into the red-giant envelope without being disrupted and whether the evolution of the parent star itself could be affected. Here we report the presence of two nearly Earth-sized bodies orbiting the post-red-giant, hot B subdwarf star KIC 05807616 at distances of 0.0060 and 0.0076AU, with orbital periods of 5.7625 and 8.2293 hours, respectively. These bodies probably survived deep immersion in the former red-giant envelope. They may be the dense cores of evaporated giant planets that were transported closer to the star during the engulfment and triggered the mass loss necessary for the formation of the hot B subdwarf, which might also explain how some stars of this type did not form in binary systems. [less ▲]

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See detailA Pluto-like radius and a high albedo for the dwarf planet Eris from an occultation
Sicardy, B.; Ortiz, J. L.; Assafin, M. et al

in Nature (2011), 478

The dwarf planet Eris is a trans-Neptunian object with an orbital eccentricity of 0.44, an inclination of 44 degrees and a surface composition very similar to that of Pluto. It resides at present at 95.7 ... [more ▼]

The dwarf planet Eris is a trans-Neptunian object with an orbital eccentricity of 0.44, an inclination of 44 degrees and a surface composition very similar to that of Pluto. It resides at present at 95.7 astronomical units (1AU is the Earth-Sun distance) from Earth, near its aphelion and more than three times farther than Pluto. Owing to this great distance, measuring its size or detecting a putative atmosphere is difficult. Here we report the observation of a multi-chord stellar occultation by Eris on 6 November 2010 UT. The event is consistent with a spherical shape for Eris, with radius 1,163+/-6kilometres, density 2.52+/-0.05 grams per cm[SUP]3[/SUP] and a high visible geometric albedo, . No nitrogen, argon or methane atmospheres are detected with surface pressure larger than ~1nanobar, about 10,000 times more tenuous than Pluto's present atmosphere. As Pluto's radius is estimated to be between 1,150 and 1,200 kilometres, Eris appears as a Pluto twin, with a bright surface possibly caused by a collapsed atmosphere, owing to its cold environment. We anticipate that this atmosphere may periodically sublimate as Eris approaches its perihelion, at 37.8 astronomical units from the Sun. [less ▲]

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See detailGravity modes as a way to distinguish between hydrogen- and helium-burning red giant stars
Bedding, Timothy R; Mosser, Benoit; Huber, Daniel et al

in Nature (2011), 471

Red giants are evolved stars that have exhausted the supply of hydrogen in their cores and instead burn hydrogen in a surrounding shell. Once a red giant is sufficiently evolved, the helium in the core ... [more ▼]

Red giants are evolved stars that have exhausted the supply of hydrogen in their cores and instead burn hydrogen in a surrounding shell. Once a red giant is sufficiently evolved, the helium in the core also undergoes fusion. Outstanding issues in our understanding of red giants include uncertainties in the amount of mass lost at the surface before helium ignition and the amount of internal mixing from rotation and other processes. Progress is hampered by our inability to distinguish between red giants burning helium in the core and those still only burning hydrogen in a shell. Asteroseismology offers a way forward, being a powerful tool for probing the internal structures of stars using their natural oscillation frequencies. Here we report observations of gravity-mode period spacings in red giants that permit a distinction between evolutionary stages to be made. We use high-precision photometry obtained by the Kepler spacecraft over more than a year to measure oscillations in several hundred red giants. We find many stars whose dipole modes show sequences with approximately regular period spacings. These stars fall into two clear groups, allowing us to distinguish unambiguously between hydrogen-shell-burning stars (period spacing mostly ~50seconds) and those that are also burning helium (period spacing ~100 to 300 seconds). [less ▲]

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See detailThe auroral footprint of Enceladus on Saturn
Pryor, Wayne R; Rymer, Abigail M; Mitchell, Donald G et al

in Nature (2011), 472

Although there are substantial differences between the magnetospheres of Jupiter and Saturn, it has been suggested that cryovolcanic activity at Enceladus could lead to electrodynamic coupling between ... [more ▼]

Although there are substantial differences between the magnetospheres of Jupiter and Saturn, it has been suggested that cryovolcanic activity at Enceladus could lead to electrodynamic coupling between Enceladus and Saturn like that which links Jupiter with Io, Europa and Ganymede. Powerful field-aligned electron beams associated with the Io-Jupiter coupling, for example, create an auroral footprint in Jupiter's ionosphere. Auroral ultraviolet emission associated with Enceladus-Saturn coupling is anticipated to be just a few tenths of a kilorayleigh (ref. 12), about an order of magnitude dimmer than Io's footprint and below the observable threshold, consistent with its non-detection. Here we report the detection of magnetic-field-aligned ion and electron beams (offset several moon radii downstream from Enceladus) with sufficient power to stimulate detectable aurora, and the subsequent discovery of Enceladus-associated aurora in a few per cent of the scans of the moon's footprint. The footprint varies in emission magnitude more than can plausibly be explained by changes in magnetospheric parameters--and as such is probably indicative of variable plume activity. [less ▲]

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See detailA SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto, Corine; Lesueur, Fabienne; Giuliano, Sandy et al

in Nature (2011), 480(7375), 94-8

So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus ... [more ▼]

So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney cancer susceptibility genes. We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC. Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers. Codon 318 is located in a small-ubiquitin-like modifier (SUMO) consensus site (PsiKXE) and Mi-E318K severely impaired SUMOylation of MITF. Mi-E318K enhanced MITF protein binding to the HIF1A promoter and increased its transcriptional activity compared to wild-type MITF. Further, we observed a global increase in Mi-E318K-occupied loci. In an RCC cell line, gene expression profiling identified a Mi-E318K signature related to cell growth, proliferation and inflammation. Lastly, the mutant protein enhanced melanocytic and renal cell clonogenicity, migration and invasion, consistent with a gain-of-function role in tumorigenesis. Our data provide insights into the link between SUMOylation, transcription and cancer. [less ▲]

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