Transient Horner's syndrome and ipsilateral facial hypopigmentation in an acromelanistic cat.

Horner's syndrome (HS) occurs when the sympathetic nerve pathway is disrupted. This case report describes a cat with acromelanism that developed unilateral facial hypopigmentation concurrently with HS after an oesophagostomy tube was placed. Both the hypopigmentation and HS resolved completely following removal of the oesophagostomy tube.

Le syndrome de Horner (HS) survient lorsque la voie nerveuse sympathique est perturbée. Ce rapport de cas décrit un chat atteint d'acromélanisme qui a développé une hypopigmentation faciale unilatérale en même temps qu'une HS après la mise en place d'une sonde d'oesophagostomie. L'hypopigmentation et l'HS ont disparu complètement après le retrait de la sonde d'œsophagostomie.

El síndrome de Horner (HS) ocurre cuando se interrumpe la transmisión nerviosa a través del nervio simpático. Este caso clínico describe un gato con acromelanismo que desarrolló hipopigmentación facial unilateral al mismo tiempo que HS después de la colocación de una sonda de esofagostomía. Tanto la hipopigmentación como la HS se resolvieron por completo tras la retirada del tubo de esofagostomía.

A síndrome de Horner (SH) ocorre quando a via do nervo simpático é danificada. Este relato de caso descreve um gato com acromelanismo que desenvolveu hipopigmentação facial unilateral concomitantemente com SH após a colocação de um tubo de esofagostomia. Tanto a hipopigmentação quanto a HS se resolveram completamente após a remoção do tubo de esofagostomia.

Palmoplantar depigmentation in Macaca fascicularis following Blaschko linear pattern.

Hypomelanosis of Ito is a rare neurocutaneous syndrome, characterized by streaks and swirls of hypopigmentation arranged in a Blaschkoid pattern. Other associated anomalies are observed. We report a case of a male cynomolgus monkey (Macaca fascicularis) who presented the characteristic of hypomelanosis of Ito with palmoplantar involvement and polythelia.

A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.

BACKGROUND: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. RESULTS: Affected animals did not reveal any ophthalmological or neurological abnormalities besides the specific iris color differences. Coat color of affected cattle did not differ from controls. Histological examination revealed a reduction of melanin pigment in the iridal anterior border layer and stroma in cases as cause of iris hypopigmentation. To analyze the genetics of the iris pigmentation differences, a genome-wide association study was performed using Illumina BovineSNP50 BeadChip genotypes of the 18 cases and 172 randomly chosen control animals. A significant association on bovine chromosome 8 (BTA8) was identified at position 60,990,733 with a -log10(p) = 9.17. Analysis of genotypic and allelic dependences between cases of iridal hypopigmentation and an additional set of 316 randomly selected Holstein Friesian cattle controls showed that allele A at position 60,990,733 on BTA8 (P = 4.0e-08, odds ratio = 6.3, 95% confidence interval 3.02-13.17) significantly increased the chance of iridal hypopigmentation. CONCLUSIONS: The clinical appearance of the iridal hypopigmentation differed from previously reported cases of pigmentation abnormalities in syndromes like Chediak-Higashi or Tietz and seems to be mainly of cosmetic character. Iridal hypopigmentation is caused by a reduced content of melanin pigment in the anterior border layer and iridal stroma. A single genomic position on BTA8 was detected to be significantly associated with iridal hypopigmentation in examined cattle. To our knowledge this is the first report about this phenotype in Holstein Friesian cattle.

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.

Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization. Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype. This discovery extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes.

[Effects of Kit gene on coat depigmentation in white horses].

Coat color of horse is an important basis for both species identification and individual recognition and is also one of the important references traits for breeding. Therefore, the research on the mechanism of coat fading has become an important part of horses' coat color study. It has been found that the white phenotype is closely related to the mutation of kit gene, which is located on chromosome 3. Investigated results showed that the formation of the epidermal melanoblast and melanin relies on the expression of kit gene, which determines the presence of white phenotype. Nevertheless, studies results have shown that the mutation of kit gene in the white horse exhibited significant differences among species. Horses that the coat color completely faded are very rare and are found occasionally in a few species. However, a larger number of horses that coat color completely faded, called Mongolian white horse, are found in West Ujimqin , Xilin Gol League, Inner Mongolia. Therefore, genetic mechanism of color fading in Mongolian white horses is still not clear. No typical mutations have been observed in 21 exons of kit gene in Mongolian white horse. This paper summarized recent international studies on molecular mechanism of color fading and tried to lay the foundation for the study of formation mechanism of Mongolian white horse. The aim of this review is to provide some valuable references to horses coat color research and breeding.

Depigmentation of skin and hair color in the somatic cell cloned pig.

Previously, we have successfully produced nine cloned piglets using Duroc donor cells. Among these clones, one showed distinct depigmentation of the skin and hair color during puberty. In this study, we selected a clone with depigmentation to investigate the etiology of the anomaly in somatic cell nuclear transfer. We hypothesized that genes related to Waardenburg syndrome (Mitf, Pax-3, Sox-10, Slug, and Kit) are closely associated with the depigmentation of pig, which was derived from somatic cell nuclear transfer (scNT). Total RNA was extracted from the ear tissue of affected and unaffected scNT-derived pigs, and the transcripts encoding Mitf, Pax-3, Sox-10, and Slug, together with the Kit gene, were amplified by reverse transcription-polymerase chain reaction, sequenced, and analyzed. The cDNA sequences from the scNT pig that showed progressive depigmentation did not reveal a mutation in these genes. Although we did not find any mutations in these genes, expression of the genes implicated in Waardenburg syndrome was severely down-regulated in the affected scNT pig when compared with unaffected scNT pigs. This down-regulation of gene expression may result in a previously undescribed phenotype that shows melanocyte instability, leading to progressive loss of pigmentation.

Uveodermatologic (VKH-like) syndrome in American Akita dogs is associated with an increased frequency of DQA1*00201.

The Akita breed of dog is affected by a number of distinct immune-mediated diseases, including thyroiditis, sebaceous adenitis, pemphigus foliaceus, uveitis, polyarthritis, myasthenia gravis, and uveodermatologic (UV) syndrome. UV syndrome is manifested by progressive uveitis and depigmenting dermatitis that closely resembles the human Vogt - Koyanagi - Harada syndrome. This study examined the allelic diversity of the three DLA class II loci (DRB1, DQA1, and DQB1) in the American Akita dog, and the relationship of specific DLA class II alleles to the UV. Low allelic variation was demonstrated within genes of DLA class II. American Akita dogs possessed six of the reported 16 DQA1 alleles, but only eight of 61 reported alleles in DRB1 and nine of 47 reported alleles in DQB1. Almost one-half of American Akita dogs were homozygous for a single allele at DQA1 and up to a quarter at DRB1 and DQB1. DLA-DQA1*00201 was associated with a significantly higher relative risk (RR = 15.3) or odds ratio (OR = 15.99) for UV syndrome than other DLA class II alleles. No significant association was noted with haplotypes of DRB1, DQB1, and DQA1 alleles; DRB1*03201-DQA1*00201 trended toward significance. This study confirmed loss of DLA genetic diversity in the American Akita dog in common with other pure breeds of dog and suggested a role for certain DLA class II gene alleles in the pathogenesis of UV.