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PMID:22302990

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Citation

Gascue, C, Tan, PL, Cardenas-Rodriguez, M, Libisch, G, Fernandez-Calero, T, Liu, YP, Astrada, S, Robello, C, Naya, H, Katsanis, N and Badano, JL (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125:362-75

Abstract

Primary cilia are conserved organelles that play crucial roles as mechano- and chemosensors, as well as transducing signaling cascades. Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies. Bardet-Biedl syndrome (BBS), a model ciliopathy, is caused by mutations in 16 known genes. However, the biochemical functions of the BBS proteins are not fully understood. Here we show that the BBS7 protein (localized in the centrosomes, basal bodies and cilia) probably has a nuclear role by virtue of the presence of a biologically confirmed nuclear export signal. Consistent with this observation, we show that BBS7 interacts physically with the polycomb group (PcG) member RNF2 and regulate its protein levels, probably through a proteasome-mediated mechanism. In addition, our data supports a similar role for other BBS proteins. Importantly, the interaction with this PcG member is biologically relevant because loss of BBS proteins leads to the aberrant expression of endogenous RNF2 targets in vivo, including several genes that are crucial for development and for cellular and tissue homeostasis. Our data indicate a hitherto unappreciated, direct role for the BBS proteins in transcriptional regulation and potentially expand the mechanistic spectrum that underpins the development of ciliary phenotypes in patients.

Links

PubMed PMC3283873 Online version:10.1242/jcs.089375

Keywords

Animals; Cell Nucleus/metabolism; Computer Simulation; Gene Expression Regulation; HEK293 Cells; HeLa Cells; Humans; Mice; NIH 3T3 Cells; Nuclear Export Signals; Polycomb Repressive Complex 1/metabolism; Protein Transport; Proteins/metabolism; Proteins/physiology; Transcription, Genetic; Zebrafish/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:TT21B

acts_upstream_of_or_within

GO:0006357: regulation of transcription by RNA polymerase II

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:BBS7

acts_upstream_of_or_within

GO:0032436: positive regulation of proteasomal ubiquitin-dependent protein catabolic process

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

P

Seeded From UniProt

complete

HUMAN:BBS7

acts_upstream_of_or_within

GO:0006357: regulation of transcription by RNA polymerase II

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

P

Seeded From UniProt

complete

HUMAN:BBS7

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

MOUSE:BBS7

located_in

GO:0005813: centrosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:BBS7

located_in

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:BBS7

located_in

GO:0005930: axoneme

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:BBS7

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:BBS5

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS1

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS10

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:TTC8

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS4

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS2

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:MKKS

enables

GO:0061629: RNA polymerase II-specific DNA-binding transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS10

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS1

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:MKKS

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS2

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS7

involved_in

GO:0032436: positive regulation of proteasomal ubiquitin-dependent protein catabolic process

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

P

Seeded From UniProt

complete

HUMAN:BBS7

involved_in

GO:0006357: regulation of transcription by RNA polymerase II

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

P

Seeded From UniProt

complete

HUMAN:BBS7

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:BBS4

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

HUMAN:TTC8

enables

GO:0001103: RNA polymerase II repressing transcription factor binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete


See also

References

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