GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001317
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
C. elegans
Trait State in Taxon B
C. elegans - long telomeres
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
roundworm; Rhabditis elegans; Caenorhabditis elegans (Maupas, 1900); Rhabditis elegans Maupas, 1900
Rank
species
Lineage
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s; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Protostomia; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
roundworm; Rhabditis elegans; Caenorhabditis elegans (Maupas, 1900); Rhabditis elegans Maupas, 1900
Rank
species
Lineage
Show more ...
s; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Protostomia; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
pot-2
Synonyms
CELE_F57C2.3; F57C2.3
String
Sequence Similarities
-
GO - Molecular Function
GO:0035312 : 5'-3' exodeoxyribonuclease activity
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GO - Biological Process
GO - Cellular Component
UniProtKB
Caenorhabditis elegans
Caenorhabditis elegans
GenebankID or UniProtKB
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Phenylalanine-to-isoleucine (F68I)
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | - | - | - |
Main Reference
Authors
Cook DE; Zdraljevic S; Tanny RE; Seo B; Riccardi DD; Noble LM; Rockman MV; Alkema MJ; et al.
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Abstract
Telomeres are involved in the maintenance of chromosomes and the prevention of genome instability. Despite this central importance, significant variation in telomere length has been observed in a variety of organisms. The genetic determinants of telomere-length variation and their effects on organismal fitness are largely unexplored. Here, we describe natural variation in telomere length across the Caenorhabditis elegans species. We identify a large-effect variant that contributes to differences in telomere length. The variant alters the conserved oligonucleotide/oligosaccharide-binding fold of protection of telomeres 2 (POT-2), a homolog of a human telomere-capping shelterin complex subunit. Mutations within this domain likely reduce the ability of POT-2 to bind telomeric DNA, thereby increasing telomere length. We find that telomere-length variation does not correlate with offspring production or longevity in C. elegans wild isolates, suggesting that naturally long telomeres play a limited role in modifying fitness phenotypes in C. elegans.
Copyright © 2016 by the Genetics Society of America.
Copyright © 2016 by the Genetics Society of America.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
The F68I mutation is found in 12 strains of C. elegans. The haplotypes that contain this variant are rare and not geographically restricted.
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