Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison)

  title={Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison)},
  author={Marios N Markakis and VIBEKE E. Soedring and Vibeke Dantzer and Knud lb Christensen and Razvan Anistoroaei},
  journal={Journal of Genetics},
Microphthalmia-associated transcription factor (MITF) is an important regulatory factor involved in the migration of melanocytes during embryonic development. Similar to other described species, in the American mink too, the MITF gene seems to be associated with lack of pigment and deafness, although no significant mutation has been identified in the gene. By histochemical methods, melanin granules were for the first time revealed in the stria vascularis in wt mink but also in the vestibular… 

The Genetics of Deafness in Domestic Animals

Significant work remains in many cases to identify specific chromosomal deafness genes so that DNA testing can be used to identify carriers of the mutated genes and thereby reduce deafness prevalence.

A genome-wide association study of deafness in three canine breeds

A genome-wide association study (GWAS) is performed to identify regions of the canine genome significantly associated with deafness in three dog breeds carrying piebald: Dalmatian, Australian cattle dog, and English setter.

A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs

This study provides the first evidence of a de novo CRE in mammals that produces a systemic functional effect and identifies a mutation in the non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor (MITF) gene that generated a novel silencer.

Genome analysis identifies the mutant genes for common industrial Silverblue and Hedlund white coat colours in American mink

The whole genome sequencing for two American mink breeds with Silverblue and Hedlund white coats is performed and mutations in splice donor sites of genes coding melanophilin and microphthalmia-associated transcription factor that regulate melanosome transport and neural-crest-derived melanocyte development are identified.

Comparative Transcriptome Analysis of Mink (Neovison vison) Skin Reveals the Key Genes Involved in the Melanogenesis of Black and White Coat Colour

This study provides several candidate genes that may be associated with the development of two coat colours in mink skin that will expand the understanding of the complex molecular mechanisms underlying skin physiology and melanogenesis in minks and will provide a foundation for future studies.

Interplay between aggression, brain monoamines and fur color mutation in the American mink

Results provide the first experimental evidence of the interplay between aggression, brain monoamines and the Hedlund mutation in the American mink, which is an extreme case of depigmentation observed in domesticated animals.

Whole-genome sequences of 89 Chinese sheep suggest role of RXFP2 in the development of unique horn phenotype as response to semi-feralization

By acquiring features like those of their wild ancestors, semi-feral sheep were able to regain fitness while in frequent contact with wild surroundings and rare human interventions, providing a new insight into the evolution of domestic animals when human interventions are no longer dominant.

Genome-Wide Detection of Selection Signatures for Pelt Quality Traits and Coat Color Using Whole-Genome Sequencing Data in American Mink

Domestication and selection are the major driving forces responsible for creating genetic variability in farmed species. American mink has been under selection for more than 100 years for improved

STRING data mining of GWAS data in canine hereditary pigment-associated deafness

Homological Series in the Variability of the Coat Color in Fur Animals

It is implied the presence of specific coloring markers of the gene component, which ensures adaptation to extreme environmental conditions in sables and northern fur seals, and American mink.



Cochlear melanocytes and MITF signaling.

  • M. Tachibana
  • Biology, Medicine
    The journal of investigative dermatology. Symposium proceedings
  • 2001
Melanocytes occur not only in the skin and eyes but in the cochlea, where they exist as intermediate cells of the stria vascularis, and Mitf/MITF is essential for development and maturation of melanocytes, including strial intermediate cells.

Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

Several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes.

Comparative anatomy of melanin pigment in the stria vascularis. Evidence for a distinction between melanocytes and intermediate cells in the cat.

Ulastructural studies of the stria in pigmented cats revealed that these perivascular cells frequently contained an abundance of pigmented organelles and other structural features which allowed them to be distinguished from intermediate cells.

A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle

Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans and SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome.

A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs.

  • S. StritzelA. WöhlkeO. Distl
  • Medicine, Biology
    Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
  • 2009
It is concluded that MITF might play a role in CCSD and blue eye colour in Dalmatian dogs.

Melanocytes and the microphthalmia transcription factor network.

How traditional genetics, modern forward genetics and in vitro biochemical analyses have combined to produce an intriguing story on the role and actions of a gene family in a living organism is shown.

Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains.

Using the evolutionary relationship of Mitf genes from numerous distantly related species, including vertebrates and invertebrates, is used to identify novel conserved domains in the Mitf protein and regions of possible functional importance in the 3' untranslated region.

Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.

Analysis of genomic TYR sequences from wild-type and albino mink samples identified a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon and indicates that the nonsense mutation is responsible for theAlbino phenotype in the American mink.

Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear.

The role of melanocytes is investigated by studying its development in a mouse mutant, viable dominant spotting, which is known to have a primary neural crest defect leading to an absence of recognisable melanocytes in the skin, and this is the clearest demonstration yet of a role for migratory melanocytes other than their role in pigmentation.

Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

It is shown that ectopic expression of MITF converts NIH/3T3 fibroblasts into cells with characteristics of melanocytes, indicating that MITF is critically involved in melanocyte differentiation.