152 research outputs found
Selenoprotein M is expressed during bone development
25 selenoproteins that contain selenium, incorporated as selenocysteine (Sec), have been identified to date. Selenoprotein M (SELM) is one of seven endoplasmic reticulum (ER)-resident, Sec-containing proteins that may be involved in posttranslational processing of proteins and maintenance of ER function. Since SELM was overrepresented in a cartilage- and bone- specific expressed sequence tag (EST) library, we further investigated the expression pattern of Selm
and its possible biological function in the skeleton. RNA in situ hybridization of Selm
in chicken and mice of different developmental stages revealed prominent expression in bones, specifically in osteoblast, and in tendons. This result suggests that SELM functions during bone development, where it is possibly involved in the processing of secreted proteins
The centromeric/nucleolar chromatin protein ZFP-37 may function to specify neuronal nuclear domains
Murine ZFP-37 is a member of the large family of C2H2 type zinc finger
proteins. It is characterized by a truncated NH2-terminal
Kruppel-associated box and is thought to play a role in transcriptional
regulation. During development Zfp-37 mRNA is most abundant in the
developing central nervous system, and in the adult mouse expression is
restricted largely to testis and brain. Here we show that at the protein
level ZFP-37 is detected readily in neurons of the adult central nervous
system but hardly in testis. In brain ZFP-37 is associated with nucleoli
and appears to contact heterochromatin. Mouse and human ZFP-37 have a
basic histone H1-like linker domain, located between KRAB and zinc finger
regions, which binds double-stranded DNA. Thus we suggest that ZFP-37 is a
structural protein of the neuronal nucleus which plays a role in the
maintenance of specialized chromatin domains
Digitales Bildkuratieren als Bereicherung des Museumsbesuchs
Das von der Deutschen Forschungsgemeinschaft (DFG) geförderte Forschungsprojekt Curating Digital Images: Ethnographic Perspectives on the Affordances of Digital Images in Museum and Heritage Contexts hat sich im Rahmen des Schwerpunktprogramms Das Digitale Bild mit diesen und anderen Fragen beschäftigt. Die Forscher:innen der Universität Tübingen und der Humboldt-Universität zu Berlin möchten mit dieser Handreichung einen Beitrag zur Debatte rund um digitale Bildtechnologien im Museums- und Kunstsektor leisten. Das Projekt umfasst zwei Arbeitsbereiche, die sich diesem Thema aus unterschiedlichen Richtungen annähern
Correction to: Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn’s disease
Correction to: Clinical Epigenetics (2020) 12:1 https://doi.org/10.1186/s13148-019-0796-
Disruption of ST5 is associated with mental retardation and multiple congenital anomalies
Background The authors observed a patient with a cryptic subtelomeric de novo balanced translocation 46,XY.ish t(11;20)(p15.4;q13.2) presenting with severe mental retardation, muscular hypotonia, seizures, bilateral sensorineural hearing loss, submucous cleft palate, persistent ductus Botalli, unilateral cystic kidney dysplasia and frequent infections.
Methods and Results Fluorescence in situ hybridisation mapping and sequencing of the translocation breakpoints showed that no known genes are disrupted at 20q13.2 and that ST5 (suppression of tumorigenicity 5; MIM 140750) is disrupted on 11p15.4. By quantitative PCR from different human tissues, the authors found ST5 to be relatively evenly expressed in fetal tissues. ST5 expression was more pronounced in adult brain, kidney and muscle than in the corresponding fetal tissues, whereas expression in other tissues was generally lower than in the fetal tissue. Using RNA in situ hybridisation in mouse, the authors found that St5 is expressed in the frontal cortex during embryonic development. In adult mouse brain, expression of St5 was especially high in the hippocampal area and cerebellum.
Conclusion Hence, the authors suppose that ST5 plays an important role in central nervous system development probably due to disturbance of DENN-domain-mediated vesicle formation and neurotransmitter trafficking. Thus, these findings implicate ST5 in the aetiology of mental retardation, seizures and multiple congenital anomalies
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