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Dilute (D Locus)

The Dilute (D Locus) genetic variation is a condition in dogs where mutations in the MLPH gene lead to a dilution of the coat color, resulting in shades like blue, lilac, and champagne.

Affected Genes: MLPH

Inheritance: Autosomal Recessive

Variant(canFam6):
D1=chr25:48618837 G>A,
D2=chr25:48647426 G>C
D3=chr25:48647388-48647389 1 bp insertion C

General Information: The D Locus (d), associated with the MLPH gene, affects coat color dilution in dogs through the distribution of melanin in the fur. Dogs with one copy of the dilute allele (D/d) may appear normal but can pass on the dilute trait, while those with two copies (d/d) exhibit noticeably lighter or washed-out colors compared to their standard coat color. This dilution is visible in what are typically black dogs appearing blue or grey and chocolate dogs appearing lilac or isabella. The phenotype extends to the dog's overall pigmentation, potentially affecting the color of the nose and eyes. Although primarily aesthetic, the trait can be linked with a condition known as color dilution alopecia, which can cause hair thinning or loss in some breeds.

Gene / Testing Information: Genetic testing for the D Locus (d) involves identifying mutations in the MLPH gene, which can predict whether a dog will display the dilute coat color trait and help breeders make informed decisions. This test identifies the d1, d2, and d3 alleles responsible for the dilution of the eumelanin and phaeomelanin pigments. The inheritance pattern of this trait is autosomal recessive, meaning that two copies of the dilute allele (d/d) are necessary for the diluted coat color to express. Carriers (D/d) do not exhibit a diluted coat but can produce diluted offspring if bred with another carrier. Breeding practices should involve testing potential breeding pairs to manage the propagation of this trait responsibly, especially since it can be associated with alopecia in some dogs. This careful genetic consideration ensures the health and well-being of the offspring, preventing the potential spread of associated health issues.

References:
Bauer A, Kehl A, Jagannathan V, Leeb T. A novel MLPH variant in dogs with coat colour dilution. 2018;49(1):94-97.

Drögemüller C, Philipp U, Haase B, Günzel-Apel AR, Leeb T. A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered. 2007; 98(5):468-473.

Dunn KA, Russell M, Boness JM. Black Hair Follicular Dysplasia. Vet Rec. 1995 14;137(16):412.

Ferrer L, Durall I, Closa J, Mascort J. Colour mutant alopecia in Yorkshire terriers. Vet Rec. 1988 122(15):360-361.

Finnie JW, Tham VL. Colour mutant alopecia in a kelpie X border collie dog. Aust Vet J. 1993 70(10):388-389.

Harper RC. Congenital black hair follicular dysplasia in bearded collie puppies. Vet Rec. 1978 102(4):87.

Kim JH, Kang KI, Sohn HJ, Woo GH, Jean YH, Hwang EK. Color-dilution alopecia in dogs. J Vet Sci. 2005 6(3):259-261.

Knottenbelt CM, Knottenbelt MK. Black hair follicular dysplasia in a tricolor Jack Russell terrier. Vet Rec. 1996 138(19):475-476.

Laffort-Dassot C, Beco L, Carlotti DN. Follicular dysplasia in five weimaraners. Vet Dermatol. 2002 13(5):253-260.

Miller WH, Jr. Alopecia associated with coat color dilution in two Yorkshire terriers, one saluki, and one mix-breed dog. J Am Anim Hosp Assoc. 1991; 27: 39-43

Perego R, Proverbio D, Roccabianca P, Spada E.Color dilution alopecia in a blue Doberman pinscher crossbreed. Can Vet J. 2009 50(5):511-$14.

Philipp U, Hamann H, Mecklenburg L, Nishino S, Mignot E, Günzel-Apel AR, Schmutz SM, Leeb T. Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet. 2005 Jun 16; 6:34.

Philipp U, Quignon P, Scott A, André C, Breen M, Leeb T. Chromosomal assignment of the canine melanophilin gene (MLPH): a candidate gene for coat color dilution in Pinschers. J Hered. 2005; 96(7):774-776.

Schmutz SM, Moker JS, Clark EG, Shewfelt R. Black hair follicular dysplasia, an autosomal recessive condition in dogs. Can Vet J. 1998 39(10):644-646.

Scott DW, Miller WH, and Griffin CE. Mueller and Kirk’s Small Animal Dermatology, 7th ed. (2013). pp 593-597. WB Saunders, Philadelphia.

Van Buren SL, Minor KM, Grahn RA, Mickelson JR, Grahn JC, Malvick J, Colangelo JR, Mueller E, Kuehnlein P, Kehl A. A Third MLPH Variant Causing Coat Color Dilution in Dogs. Genes. 2020; 11(6):639.

Welle M, Philipp U, Rufenacht S, Roosje P, Scharfenstein M, Schutz E, Brenig B, Linek M, Mecklenburg L, Grest P, Drogemuller M, Haase B, Leeb T, Drogemuller C. MLPH genotype – Melanin phenotype correlation in dilute dogs. J Hered. 2009:100(Supplement 1):S75–S79.

Yousha, JP, D Bannasch, and Phyllis McDonald. "Coat color in the toller: Breed history and current genetics." Nova Scotia Duck Tolling Retriever Club. Web. 1 Apr 2014. http://nsdtrc-usa.org/wp-content/uploads/2013/12/COAT-COLOR-IN-THE-TOLLER.pdf