Gene expression regulation in the context of mouse interspecific mosaic genomes

The testis transcriptome of mouse strains containing homozygous segments of Mus spretus origin in a Mus musculus background was analyzed

investigation of the agouti gene for the identification of useful markers for coat colour association studies in domestic rabbits

AbstractIn wild-type mice, it is well known that Agouti is expressed in skin where it controls the banded-hair Agouti phenotype. Molecular genetics and pharmacological studies show that mutually exclusive binding of the melanocortin 1 receptor (MC1R) by the Agouti protein or by -melanocyte-stimulating hormone (a-MSH) signals hair-bulb melanocytes to synthesise preferentially either pheomelanin (yellow-red pigment) or eumelanin (black-brown pigment), respectively. In mice as well as in other species, loss-of-function mutations of the Agouti gene determine only the production of eumelanin while gain-of-function mutations lead to pheomelanin production. A variety of coat colours appear as a result of these alterations that show also epistatic interactions with MC1R mutations. In rabbit, classical studies have suggested the presence of three alleles at the Agouti locus: A (wild type allele), at (black and tan) and a (non-agouti). We recently showed that mutations in the rabbit MC1R gene are associated with c..

Mc1r, Agouti signaling protein (ASIP) and CBD103 are involved in brindle coat colour of Boxer and Great Dane dogs

In most mammals, variations in skin and hair colour (brown/black eumelanin and the red/yellow phaeomelanin) are mainly achieved by the interaction between two genes: Agouti signaling protein (ASIP) and melanocortin 1 receptor (Mc1r) encoding a ligand-receptor system that controls the eumelanin/pheomelanin switching. In domestic dogs, pigment type-switching is also controlled by an unexpected allele (CBD103) of K locus encoding a secreted protein (β-defensin) previously studied for its role in immunity. Interaction studies reveal that Mc1r is epistatic to variation at Agouti and K loci. In this work, we examined Mc1r, ASIP and CBD103 as candidate genes for brindle or fawn Boxer and Great Dane animals. The brindle phenotype in domestic dogs consists of an irregular pattern of red-yellow stripes alternating with black-brown. We found that all brindle dogs are heterozygous for ΔG23 mutation previously reported by Barsh’s team. In addition, we report for the fi rst time two interesting insertions in Agouti promoter region. The innovation of this work is the discovery of new alternative transcripts of Agouti that could be involved in brindle coat colour pattern in dogs. The interaction between CBD103 mutation and Agouti insertions promoting the different transcripts is discussed. This can be a starting point in better understanding their involvement in pigment switching leading to the brindle pattern formation

Caracterization of different 5’ ultranslated exons of the ASIP gene in blak-and-tan Doberman Pinscher and brindle Boxer dogs

Differential expression of the ASIP gene and its interaction with MC1R have provided basic insight into pigment-type switching in mammals. Here, we report the characterization of a specific red-haired skin transcript and a specific black-haired skin transcript in the ASIP gene in the black-and-tan Doberman Pinscher. It is also shown that the brindle-haired skin of the Boxer exhibits a deregulated expression resulting in various 5'-untranslated exons. Comparative sequence analysis revealed a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP in the Boxer. Genotyping studies have shown that both insertions are also present in brindle and fawn animals of the Boxer and Great Dane breeds. Furthermore, we genotyped MC1R and K loci for their known variants that affect coat color in dogs. As expected, all animals were homozygotes (E(M) /E(M) ) for the mask mutation, and fawn animals were k(y) /k(y) . Unexpectedly, we found that all brindle animals were heterozygotes k(B) /k(y) . Our results suggest that differential expression of ASIP determine pigment-type switching in a MC1R and K allele-dependent manner in dogs

Complete genomic organization of futb encoding a bovine alpha-3-fucosyltransferase: exons in human orthologous genes emerged from ancestral intronic sequences.

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Characterization of different 5'-untranslated exons of the ASIP gene in black-and-tan Doberman Pinscher and brindle Boxer dogs.

Chantier qualité GAInternational audienceDifferential expression of the ASIP gene and its interaction with MC1R have provided basic insight into pigment-type switching in mammals. Here, we report the characterization of a specific red-haired skin transcript and a specific black-haired skin transcript in the ASIP gene in the black-and-tan Doberman Pinscher. It is also shown that the brindle-haired skin of the Boxer exhibits a deregulated expression resulting in various 5'-untranslated exons. Comparative sequence analysis revealed a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP in the Boxer. Genotyping studies have shown that both insertions are also present in brindle and fawn animals of the Boxer and Great Dane breeds. Furthermore, we genotyped MC1R and K loci for their known variants that affect coat color in dogs. As expected, all animals were homozygotes (E(M) /E(M) ) for the mask mutation, and fawn animals were k(y) /k(y) . Unexpectedly, we found that all brindle animals were heterozygotes k(B) /k(y) . Our results suggest that differential expression of ASIP determine pigment-type switching in a MC1R and K allele-dependent manner in dogs

Characterization of different 5’-untraslated exons of ASIP gene in black-and tan Doberman Pinsher and brindle Boxer dogs

Differential expression of the ASIP gene and its interaction with MC1R have provided basic insight into pigment-type switching in mammals. Here, we report the characterization of a specific red-haired skin transcript and a specific black-haired skin transcript in the ASIP gene in the black-and-tan Doberman Pinscher. It is also shown that the brindle-haired skin of the Boxer exhibits a deregulated expression resulting in various 5′-untranslated exons. Comparative sequence analysis revealed a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP in the Boxer. Genotyping studies have shown that both insertions are also present in brindle and fawn animals of the Boxer and Great Dane breeds. Furthermore, we genotyped MC1R and K loci for their known variants that affect coat color in dogs. As expected, all animals were homozygotes (EM/EM) for the mask mutation, and fawn animals were ky/ky. Unexpectedly, we found that all brindle animals were heterozygotes kB/ky. Our results suggest that differential expression of ASIP determine pigment-type switching in a MC1R and K allele-dependent manner in dogs