Difference between revisions of "Annotation Conf. Call, February 24, 2015"

From GO Wiki
Jump to: navigation, search
(Summary of Phenotypes Observed)
(Summary of Phenotypes Observed)
Line 55: Line 55:
 
|-
 
|-
 
|Nuclear Organization
 
|Nuclear Organization
|
+
|larger nuclei, irregularly shaped
|
+
|larger nuclei, irregularly shaped, multinucleate cells
 
|-
 
|-
 
|Tissue/Organ Development
 
|Tissue/Organ Development

Revision as of 08:03, 20 February 2015

Agenda

Annotation Consistency Exercise

Here is a link to the paper that I've chosen for the first annotation consistency exercise/discussion:

http://www.ncbi.nlm.nih.gov/pubmed/25569233

It describes studies on C. elegans bcl-7 (http://www.wormbase.org/species/c_elegans/gene/WBGene00016192) and human BCL7B (http://www.uniprot.org/uniprot/Q9BQE9).

The main thing I'd like to focus on for the annotation exercise is what Biological Process annotations curators make, noting that, at the moment, the all-encompassing Biological Process terms might not yet exist for what is described in the paper. In particular, I'd like to discuss annotating to a process vs. regulation of a process, and the use of annotation extensions to provide more context for the BP terms.

I've included some links to entries on the anatomy terms and phenotypes described in the paper, in case they're helpful:

Note that the paper starts with gross anatomical defects and then progresses to a more detailed characterization of the phenotype. This is fairly typical.

Summary of Phenotypes Observed

Process Phenotype - C. elegans bcl-7 Phenotype - Human BCL7B
Apoptosis increased expression of anti-apoptotic factor in mutant animals; no organismal changes increased apoptosis from overexpression; increased survival with knockdown and actinomycin D treatment
Cell Cycle decreased number of mitotic germ cells increased number of cells in G0/G1 phase
Cell Differentiation
Gene Expression
Nuclear Organization larger nuclei, irregularly shaped larger nuclei, irregularly shaped, multinucleate cells
Tissue/Organ Development
Wnt Signaling Pathway

Summary of Molecular Markers Affected in bcl-7 Mutant Animals

Gene/Marker Name Molecular Identity Anatomical Expression Pattern Result
scm::gfp not known nuclei of seam cells, all larval stages reduced number except for early L1 larval stage
cdh-3::gfp cadherin cytoplasm of seam cells reduced number
col-19::gfp collagen hypodermal syncytium (hyp7) and seam cells in adult stage decreased in hyp7 (not significant), decreased in seam cells (significant)
des-2::gfp nicotinic acetylcholine receptor PVD neurons no extra neurons
dat-1::gfp dopamine transporter PDE neurons no extra neurons
egl-27::mCherry MTA1 homolog, NODE complex strong in intestine, weak in epidermis in L4 larval stage increased expression ubiquitously, but especially in seam cells and hyp7; increased expression - qRT-PCR
ceh-6 POU-homeodomain transcription factor, NODE complex not reported in this paper, but head and tail region, excretory cell, neurons, vulva - dynamic expression pattern increased expression - qRT-PCR
histone H3 (anti-phospho-histone, PH3) chromatin mitotic germ line decreased number of mitotic cells, further from source of proliferative signal (distal tip cells, DTCs)
lag-2 Notch ligand DSL (Delta, Serrate, LAG-2) 2 distal tip cells (DTCs) loss of expression in one distal tip cell
wrm-1 beta-catenin seam cells, somatic gonad precursors (SGPs, distal tip cell parents) increased expression (not significant) - qRT-PCR
bar-1 beta-catenin not discussed in this paper increased expression (significant) - qRT-PCR
sys-1 beta-catenin not discussed in this paper increased expression (significant) - qRT-PCR
WRM-1::GFP beta-catenin anterior cortex of mother seam cell at L2; higher in posterior daughter cell anterior daughter cells higher or equal to posterior daughter cell (50% of animals)
POP-1::GFP TCF/LEF transcription factor high anterior seam cell daughter confers non-seam fate, low posterior seam cell daughter confers seam fate increased in posterior seam daughter
POP-1::GFP TCF/LEF transcription factor higher in Z1.p and Z4.a (proximal, P) proximal cells equal to, or lower, than distal (D) cells
GFP::HLH-2 basic helix-loop-helix transcription factor present in both distal tip cells (DTCs) decreased expression - seen in only one or no DTCs
ced-9 anti-apoptosis factor not described in paper increased expression (significant), qRT-PCR

Summary of Molecular Markers Affected in BCL7B Knockdown in KATOIII cells

Gene/Marker Name Molecular Identity Result
Nanog homeodomain transcription factor - maintains pluripotency increased - qRT-PCR
Oct3/4 POU domain transcription factor - expressed in ES cells increased - qRT-PCR
Sox2 Sry-related transcription factor - marker for pluripotency increased - qRT-PCR
NEAT1 lncRNA - core molecule of nuclear paraspeckles increased - qRT-PCR
beta-catenin Wnt signaling pathway increased - qRT-PCR
HMGA1 high mobility group protein - Wnt signaling pathway target increased - qRT-PCR
c-FLIP apoptosis inhibitor increased - qRT-PCR
Bcl2 apoptosis inhibitor increased - qRT-PCR
PTEN lipid phosphatase - pro-apoptotic factor no significant change - qRT-PCR
Bax pro-apoptotic factor increased - qRT-PCR (not as great an increase as Bcl2)