Autosomal-dominant hypotrichosis with woolly hair : novel gene locus on chromosome 4q35.1-q35.2

Hypotrichosis simplex (HS) with and without woolly hair (WH) comprises a group of rare, monogenic disorders of hair loss. Patients present with a diffuse loss of scalp and/or body hair, which usually begins in early childhood and progresses into adulthood. Some of the patients also show hair that is tightly curled. Approximately 10 genes for autosomal recessive and autosomal dominant forms of HS have been identified in the last decade, among them five genes for the dominant form. We collected blood and buccal samples from 17 individuals of a large British family with HS and WH. After having sequenced all known dominant genes for HS in this family without the identification of any disease causing mutation, we performed a genome-wide scan, using the HumanLinkage-24 BeadChip, followed by a classical linkage analysis; and whole exome-sequencing (WES). Evidence for linkage was found for a region on chromosome 4q35.1-q35.2 with a maximum LOD score of 3.61. WES led to the identification of a mutation in the gene SORBS2, encoding sorbin and SH3 domain containing 2. Unfortunately, we could not find an additional mutation in any other patient/family with HS; and in cell culture, we could not observe any difference between cloned wildtype and mutant SORBS2 using western blotting and immunofluorescence analyses. Therefore, at present, SORBS2 cannot be considered a definite disease gene for this phenotype. However, the locus on chromosome 4q is a robust and novel finding for hypotrichosis with woolly hair. Further fine mapping and sequencing efforts are therefore warranted in order to confirm SORBS2 as a plausible HS disease gene

Planetary Defense Ground Zero: MASCOT's View on the Rocks - an Update between First Images and Sample Return

At 01:57:20 UTC on October 3rd, 2018, after 3½ years of cruise aboard the JAXA spacecraft HAYABUSA2 and about 3 months in the vicinity of its target, the MASCOT lander was separated successfully by from an altitude of 41 m. After a free-fall of only ~5m51s MASCOT made first contact with C-type near-Earth and potentially hazardous asteroid (162173) Ryugu, by hitting a big boulder. MASCOT then bounced for ~11m3s, in the process already gathering valuable information on mechanical properties of the surface before it came to rest. It was able to perform science measurements at 3 different locations on the surface of Ryugu and took many images of its spectacular pitch-black landscape. MASCOT’s payload suite was designed to investigate the fine-scale structure, multispectral reflectance, thermal characteristics and magnetic properties of the surface. Somewhat unexpectedly, MASCOT encountered very rugged terrain littered with large surface boulders. Observing in-situ, it confirmed the absence of fine particles and dust as already implied by the remote sensing instruments aboard the HAYABUSA2 spacecraft. After some 17h of operations, MASCOT‘s mission ended with the last communication contact as it followed Ryugu’s rotation beyond the horizon as seen from HAYABUSA2. Soon after, its primary battery was depleted. We present a broad overview of the recent scientific results of the MASCOT mission from separation through descent, landing and in-situ investigations on Ryugu until the end of its operation and relate them to the needs of planetary defense interactions with asteroids. We also recall the agile, responsive and sometimes serendipitous creation of MASCOT, the two-year rush of building and delivering it to JAXA’s HAYABUSA2 spacecraft in time for launch, and the four years of in-flight operations and on-ground testing to make the most of the brief on-surface mission

The Development and first Cruise Activity of the MASCOT Lander onboard the Hayabuse 2 mission

Since December 2014 the Japanese spacecraft Hayabusa-II is on its journey to asteroid 1999 JU3. Like its famous predecessor it is foreseen to study and return samples from its target body. This time, the mother spacecraft has several small passengers. One of them is a compact landing package called MASCOT (Mobile Asteroid surface SCOuT), which has been developed by the German Aerospace Centre (DLR) and the Centre National d'Etudes Spatiales (CNES). Once having been released from its motherspacecraft's cradle, MASCOT will descend to the asteroid and after a few bounces will come to rest at a certain location on the surface. Sitting on the surface, it will perform its scientific investigations of the asteroids surface structure, mineralogical and physical properties, thermal behaviour and magnetic effects by using its suite of four scienti c instruments: a spectrometer (MicrOmega, IAS Paris), a camera (CAM, DLR Berlin), a radiometer (MARA, DLR Berlin) and a magnetometer (MAG, TU Braunschweig). These payload operations are made possible, amongst others, by a clever thermal subsystem design specifically devised to cope with the contrasting requirements of cold cruise and hot on-surface operations and a primary battery optimizing mass versus energy output. A mobility mechanism realizes locomotion in the surface supported by an according attitude and motion sensing system and an intelligent autonomy manager, which is implemented in the onboard Software, can operate MASCOT when ground intervention is not available. In a nutshell, with its many challenging technical hurdles that have been solved, the MASCOT lander can serve as a benchmark for extremely lightweight (10kg), highly integrated mobile small body landing systems with onboard autonomy and high science output. This paper will summarize the mission and system development. We will provide an overview over the final capabilities of the system as well as discuss the latest challenging pre-launch activities and tests. Further a summary and an outlook regarding the already performed as well as upcoming post-launch activities will follow

MASCOT, the small mobile package on its piggyback journey to 1999JU3: pre-launch and post-launch activities

Since December 2014 the Japanese spacecraft Hayabusa2 is on its journey to asteroid (162173) 1999 JU3. Like its famous predecessor it is expected to study and return samples from its target body. This time, the mother spacecraft has several small passengers. One of them is a compact landing package called MASCOT (Mobile Asteroid surface SCOuT), which has been developed by the German Aerospace Centre (DLR) and the Centre National d'Etudes Spatiales (CNES). Once having been released from its mother spacecraft's cradle, MASCOT will descend to the asteroid and after a few bounces will come to rest at a certain location on the surface. Sitting on the surface, it will perform its scientific investigations of the asteroids surface structure, mineralogical and physical properties, thermal behaviour and magnetic effects by using its suite of four scientific instruments: a spectrometer (MicrOmega, IAS Paris), a camera (CAM, DLR Berlin), a radiometer (MARA, DLR Berlin) and a magnetometer (MAG, TU Braunschweig). These payload operations are made possible by, amongst others, a clever thermal subsystem design specifically devised to cope with the contrasting requirements of cold cruise and hot on-surface operations and a primary battery optimizing mass versus energy output. A mobility mechanism realizes locomotion on the surface supported by an attitude and motion sensing system. An intelligent autonomy manager which is implemented in the onboard software can operate MASCOT when ground intervention is not available. In a nutshell, with its many challenging technical hurdles that have been solved, the MASCOT lander can serve as a benchmark for extremely lightweight (10 kg), highly integrated mobile small body landing systems with onboard autonomy and high science output. This paper will summarize the mission and system development. We will provide an overview of the final capabilities of the system as well as discuss the last challenging pre-launch activities and tests. Further a summary and an outlook regarding the already performed as well as upcoming post-launch activities will follow. Lessons have been learned and will be told to be ready for future upcoming missions for small solar system body exploration

MASCOT - a Mobile Lander on-board Hayabusa2 Spacecraft - Status and Operational Concept for the Asteroid Ryugu

MASCOT (‘Mobile Asteroid Surface Scout’) is a 10 kg mobile surface science package on board JAXA’s Hayabusa2 sample return mission, currently on its way to the near-Earth asteroid (162173) Ryugu. The mission was launched in December 2014 from Tanegashima Space Center, Japan. The Hayabusa2 spacecraft will reach the target asteroid in summer 2018. Hayabusa2 will return its samples to Earth in December 2020. After arrival at the target asteroid ‘Ryugu’ a detailed mapping phase will be performed and the landing site of MASCOT will be selected. The deployment of MASCOT to the asteroids surface is planned for the beginning of October 2018. MASCOT has been developed by the German Aerospace Center (DLR) in cooperation with the Centre National d’Etudes Spatiales (CNES). The main objective of MASCOT is to perform in-situ investigations of the asteroid surface and to support the sampling site selection for the mother spacecraft. Mascot is equipped with four scientific instruments a wide angle camera, a hyperspectral infrared microscope, a radiometer and a magnetometer. The camera (MasCam) provides ground truth for the orbital measurements of the Hayabusa2 orbiter instruments and the in-situ MASCOT sensor suite as well as geological context of the samples. The radiometer (MARA) determines the surface brightness temperature, the thermal inertia of the surface material and the spectral slope in infrared. The radiometer field of view is correlated with the wide angle camera field of view. The magnetometer (MasMAG) observes the magnetic field profile during descent and bouncing and determines any global and local magnetization of the asteroid