Gutenberg Open Science: Tissue-dependent differences in Bardet

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-7007

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DC Field	Value	Language
dc.contributor.author	Patnaik, Sarita Rani	-
dc.contributor.author	Farag, Aalaa	-
dc.contributor.author	Brücker, Lena	-
dc.contributor.author	Volz, Ann-Kathrin	-
dc.contributor.author	Schneider, Sandra	-
dc.contributor.author	Kretschmer, Viola	-
dc.contributor.author	May-Simera, Helen Louise	-
dc.date.accessioned	2022-05-20T09:06:46Z	-
dc.date.available	2022-05-20T09:06:46Z	-
dc.date.issued	2020	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/7021	-
dc.description.abstract	Background Information Primary cilia are highly conserved multifunctional cell organelles that extend from the cell membrane. A range of genetic disorders, collectively termed ciliopathies, is attributed to primary cilia dysfunction. The archetypical ciliopathy is the Bardet–Biedl syndrome (BBS), patients of which display virtually all symptoms associated with dysfunctional cilia. The primary cilium acts as a sensory organelle transmitting intra- and extracellular signals thereby transducing various signalling pathways facilitated by the BBS proteins. Growing evidence suggests that cilia proteins also have alternative functions in ciliary independent mechanisms, which might be contributing to disease etiology. Results In an attempt to gain more insight into possible differences in organ specific roles, we examined whether relative gene expression for individual Bbs genes was constant across different tissues in mouse, in order to distinguish possible differences in organ specific roles. All tested tissues show differentially expressed Bbs transcripts with some tissues showing a more similar stoichiometric composition of transcripts than others do. However, loss of Bbs6 or Bbs8 affects expression of other Bbs transcripts in a tissue-dependent way. Conclusions and Significance Our data support the hypothesis that in some organs, BBS proteins not only function in a complex but might also have alternative functions in a ciliary independent context. This significantly alters our understanding of disease pathogenesis and development of possible treatment strategies.	en_GB
dc.language.iso	eng	de
dc.rights	CC BY-NC-ND	*
dc.rights.uri	https://creativecommons.org/licenses/by-nc-nd/4.0/	*
dc.subject.ddc	570 Biowissenschaften	de_DE
dc.subject.ddc	570 Life sciences	en_GB
dc.title	Tissue-dependent differences in Bardet–Biedl syndrome gene expression	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-7007	-
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 10 Biologie	de
jgu.organisation.number	7970	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	Biology of the cell	de
jgu.journal.volume	112	de
jgu.journal.issue	2	de
jgu.pages.start	39	de
jgu.pages.end	52	de
jgu.publisher.year	2020	-
jgu.publisher.name	Wiley-Blackwell	de
jgu.publisher.place	Frederiksberg	de
jgu.publisher.issn	1768-322X	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	570	de
jgu.publisher.doi	10.1111/boc.201900077	de
jgu.organisation.ror	https://ror.org/023b0x485
Appears in collections:	JGU-Publikationen

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