Authors:	Patnaik, Sarita Rani Farag, Aalaa Brücker, Lena Volz, Ann-Kathrin Schneider, Sandra Kretschmer, Viola May-Simera, Helen Louise
Title:	Tissue-dependent differences in Bardet–Biedl syndrome gene expression
Online publication date:	20-May-2022
Year of first publication:	2020
Language:	english
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.
DDC:	570 Biowissenschaften 570 Life sciences
Institution:	Johannes Gutenberg-Universität Mainz
Department:	FB 10 Biologie
Place:	Mainz
ROR:	https://ror.org/023b0x485
DOI:	http://doi.org/10.25358/openscience-7007
Version:	Published version
Publication type:	Zeitschriftenaufsatz
License:	CC BY-NC-ND
Information on rights of use:	https://creativecommons.org/licenses/by-nc-nd/4.0/
Journal:	Biology of the cell 112 2
Pages or article number:	39 52
Publisher:	Wiley-Blackwell
Publisher place:	Frederiksberg
Issue date:	2020
ISSN:	1768-322X
Publisher DOI:	10.1111/boc.201900077
Appears in collections:	JGU-Publikationen