GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001675
Main curator
Prigent
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
Dwarf breed
Trait #2
Trait Category
Trait
Trait State in Taxon A
-
Trait State in Taxon B
-
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Netherland dwarf breed
GENOTYPIC CHANGE
Generic Gene Name
HMGA2
Synonyms
BABL; LIPO; HMGIC; HMGI-C; STQTL9
String
Sequence Similarities
Belongs to the HMGA family.
GO - Molecular Function
GO:0008134 : transcription factor binding
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GO - Biological Process
GO:0007275 : multicellular organism development
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GO - Cellular Component
GO:0005654 : nucleoplasm
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UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
10-100 kb
Molecular Details of the Mutation
deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element
Experimental Evidence
Main Reference
Authors
Carneiro M; Hu D; Archer J; Feng C; Afonso S; Chen C; Blanco-Aguiar JA; Garreau H; et al.
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Abstract
The dwarf phenotype characterizes the smallest of rabbit breeds and is governed largely by the effects of a single dwarfing allele with an incompletely dominant effect on growth. Dwarf rabbits typically weigh under 1 kg and have altered craniofacial morphology. The dwarf allele is recessive lethal and dwarf homozygotes die within a few days of birth. The dwarf phenotype is expressed in heterozygous individuals and rabbits from dwarf breeds homozygous for the wild-type allele are normal, although smaller when compared to other breeds. Here, we show that the dwarf allele constitutes a ∼12.1 kb deletion overlapping the promoter region and first three exons of the HMGA2 gene leading to inactivation of this gene. HMGA2 has been frequently associated with variation in body size across species. Homozygotes for null alleles are viable in mice but not in rabbits and probably not in humans. RNA-sequencing analysis of rabbit embryos showed that very few genes (4-29 genes) were differentially expressed among the three HMGA2/dwarf genotypes, suggesting that dwarfism and inviability in rabbits are caused by modest changes in gene expression. Our results show that HMGA2 is critical for normal expression of IGF2BP2, which encodes an RNA-binding protein. Finally, we report a catalog of regions of elevated genetic differentiation between dwarf and normal-size rabbits, including LCORL-NCAPG, STC2, HOXD cluster, and IGF2BP2 Levels and patterns of genetic diversity at the LCORL-NCAPG locus further suggest that small size in dwarf breeds was enhanced by crosses with wild rabbits. Overall, our results imply that small size in dwarf rabbits results from a large effect, loss-of-function (LOF) mutation in HMGA2 combined with polygenic selection.
Copyright © 2017 by the Genetics Society of America.
Copyright © 2017 by the Genetics Society of America.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
Null mutation. Homozygotes die within a few days of birth (Autosomal Recessive Lethal) ; @HeterozygoteAdvantage ; https://omia.org/OMIA000299/9986/
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