2021
DOI: 10.1177/10406387211022309
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PCR-RFLP molecular confirmation of color dilution alopecia in dogs in Brazil

Abstract: Color dilution alopecia (CDA) is a dermatopathy observed exclusively in animals having a diluted coat color. In dogs, color dilution occurs as a result of a single-nucleotide variation (SNV) c.-22G  >  A in the melanophilin gene. We standardized a PCR–restriction-fragment length polymorphism (PCR-RFLP) technique to identify this mutation and determine its frequency in dogs in Brazil. The standardized PCR-RFLP technique could efficiently identify the SNV c.-22G  >  A in the melanophilin gene, with mutated… Show more

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Cited by 3 publications
(3 citation statements)
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“…Mutation in the melanophilin (MLPH) gene has been considered as a potential cause for this condition (3). CDA has been reported in Yorkshire Terriers, but also in Doberman pinschers and Dachshunds (2,3,9). Affected dogs develop hypotrichosis restricted to dark-haired regions associated with brittle and easily shed hair leading to alopecia (1,4,8).…”
Section: Discussionmentioning
confidence: 99%
“…Mutation in the melanophilin (MLPH) gene has been considered as a potential cause for this condition (3). CDA has been reported in Yorkshire Terriers, but also in Doberman pinschers and Dachshunds (2,3,9). Affected dogs develop hypotrichosis restricted to dark-haired regions associated with brittle and easily shed hair leading to alopecia (1,4,8).…”
Section: Discussionmentioning
confidence: 99%
“…Trichograms, showing numerous macromelanosomes within the hair shaft leading to irregularities and distortion, and skin biopsies with histopathology exhibiting dilated hair follicles filled with keratin, hair shafts, free melanin, and abnormal melanin clumps in the epidermis and hair follicles, are important diagnostic tools. Commercially available DNA tests targeting the Ras-related protein Rab-27 (RAB27) or malanophilin (MLPH) are now also available [ 14 , 18 , 142 , 144 ]. There is no specific treatment, and trauma as well as intense UV-light exposure should be avoided [ 14 , 18 , 144 ].…”
Section: Skin Diseases In Brachycephalic Breeds That Are Not Directly...mentioning
confidence: 99%
“…Colour Dilution Alopecia (CDA)/Black Hair Follicular Dysplasia/Follicular Dysplasia (FD) These dermatopathies are reported in both brachycephalic and non-brachycephalic dog breeds, including Chihuahuas, Yorkshire Terriers, Shih Tzus, Boxers, Boston Terriers, Cavalier King Charles Spaniels, and blue Chow Chows [14,[18][19][20][21][22][23]. The disease is inherited by an autosomal-recessive trait with singular or multiple mutations within or near the melanophilin gene [142,143]. Melanin precursors with cytotoxic effects and abnormal pigment clumps in the epidermis, hair shaft, hair follicle, and hair matrix lead to bulging and fracture of the hair cuticle and therefore alopecia [144].…”
Section: Congenital Alopeciamentioning
confidence: 99%