GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000916
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Bos bovis - horns
Trait State in Taxon B
Bos bovis - hornless - various cattle breeds from Scandinavia; Scotland; England; the Channel Islands and France down to the Alpine region (thus also referred to as the Celtic allele Pc)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
-
Synonyms
-
String
-
Sequence Similarities
-
GO - Molecular Function
-
GO - Biological Process
-
GO - Cellular Component
-
UniProtKB
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Indel Size
100-999 bp
Molecular Details of the Mutation
complex 202-bp insertion-deletion in a non-coding region resulting in a long non-coding RNA (lncRNA) ectopic expression
Experimental Evidence
Authors
Wiedemar N; Tetens J; Jagannathan V; Menoud A; Neuenschwander S; Bruggmann R; Thaller G; Drögemüller C
Abstract
The molecular regulation of horn growth in ruminants is still poorly understood. To investigate this process, we collected 1019 hornless (polled) animals from different cattle breeds. High-density SNP genotyping confirmed the presence of two different polled associated haplotypes in Simmental and Holstein cattle co-localized on BTA 1. We refined the critical region of the Simmental polled mutation to 212 kb and identified an overlapping region of 932 kb containing the Holstein polled mutation. Subsequently, whole genome sequencing of polled Simmental and Holstein cows was used to determine polled associated genomic variants. By genotyping larger cohorts of animals with known horn status we found a single perfectly associated insertion/deletion variant in Simmental and other beef cattle confirming the recently published possible Celtic polled mutation. We identified a total of 182 sequence variants as candidate mutations for polledness in Holstein cattle, including an 80 kb genomic duplication and three SNPs reported before. For the first time we showed that hornless cattle with scurs are obligate heterozygous for one of the polled mutations. This is in contrast to published complex inheritance models for the bovine scurs phenotype. Studying differential expression of the annotated genes and loci within the mapped region on BTA 1 revealed a locus (LOC100848215), known in cow and buffalo only, which is higher expressed in fetal tissue of wildtype horn buds compared to tissue of polled fetuses. This implicates that the presence of this long noncoding RNA is a prerequisite for horn bud formation. In addition, both transcripts associated with polledness in goat and sheep (FOXL2 and RXFP2), show an overexpression in horn buds confirming their importance during horn development in cattle.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
Genetic Heterogeneity: several alleles mapped at the same locus ; Functionally validated by a CRISPR experiment
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