GEPHE SUMMARY Print
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 - Celtic allele P[sub]C OR P[sub]202ID - 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
Medugorac I; Seichter D; Graf A; Russ I; Blum H; Göpel KH; Rothammer S; Förster M; et al. ... show more
Abstract
The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for a solution in the production of hornless cattle other than dehorning. Although the dominant inhibition of horn morphogenesis was discovered more than 70 years ago, and the causative mutation was mapped almost 20 years ago, its molecular nature remained unknown. Here, we report allelic heterogeneity of the POLLED locus. First, we mapped the POLLED locus to a ∼381-kb interval in a multi-breed case-control design. Targeted re-sequencing of an enlarged candidate interval (547 kb) in 16 sires with known POLLED genotype did not detect a common allele associated with polled status. In eight sires of Alpine and Scottish origin (four polled versus four horned), we identified a single candidate mutation, a complex 202 bp insertion-deletion event that showed perfect association to the polled phenotype in various European cattle breeds, except Holstein-Friesian. The analysis of the same candidate interval in eight Holsteins identified five candidate variants which segregate as a 260 kb haplotype also perfectly associated with the POLLED gene without recombination or interference with the 202 bp insertion-deletion. We further identified bulls which are progeny tested as homozygous polled but bearing both, 202 bp insertion-deletion and Friesian haplotype. The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
3
COMMENTS
Associated gene still not identified - @Parallelism - Functionally validated by a CRISPR experiment - https://omia.org/OMIA000483/9913/
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