GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000422
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Other mammals
Trait State in Taxon B
Primata ancestor
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
mammals
Synonyms
mammals
Rank
class
Lineage
Show more ... Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
Primata; Primates Linnaeus, 1758
Rank
order
Lineage
Show more ... erostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Molecular Details of the Mutation
pseudogenization
Experimental Evidence
Authors
Hiller M; Schaar BT; Indjeian VB; Kingsley DM; Hagey LR; Bejerano G
Abstract
Genotype-phenotype mapping is hampered by countless genomic changes between species. We introduce a computational "forward genomics" strategy that-given only an independently lost phenotype and whole genomes-matches genomic and phenotypic loss patterns to associate specific genomic regions with this phenotype. We conducted genome-wide screens for two metabolic phenotypes. First, our approach correctly matches the inactivated Gulo gene exactly with the species that lost the ability to synthesize vitamin C. Second, we attribute naturally low biliary phospholipid levels in guinea pigs and horses to the inactivated phospholipid transporter Abcb4. Human ABCB4 mutations also result in low phospholipid levels but lead to severe liver disease, suggesting compensatory mechanisms in guinea pig and horse. Our simulation studies, counts of independent changes in existing phenotype surveys, and the forthcoming availability of many new genomes all suggest that forward genomics can be applied to many phenotypes, including those relevant for human evolution and disease.

Copyright © 2012 The Authors. Published by Elsevier Inc. All rights reserved.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
3
COMMENTS
Consecutive invalidating mutations
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