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Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo University of Leipzig June 10, 2016 Cat Coat – Color, Pattern and Genetics

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Page 1: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Cat Coat – Color, Pattern and Genetics

Sonja Prohaska

Computational EvoDevo

University of Leipzig

June 10, 2016

Cat Coat – Color, Pattern and Genetics

Page 2: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Cat Coat Color, Pattern and Genetics

Cat Coat – Color, Pattern and Genetics

Page 3: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

How Hair Gets Color

◮ melanoblasts derive from neural crest

◮ dorso-ventral migration (back to belly)

◮ differentiation into melanocytes

◮ melanocytes move into epidermis and

to the basis of hair folicle

◮ production of melanin

◮ formation of melanosomes

Cat Coat – Color, Pattern and Genetics

Page 4: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

How Hair Gets Color – melanocytes

Melanine, the pigment, is produced by melanocytes and stored inmelanosomes.

Cat Coat – Color, Pattern and Genetics

Page 5: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Excursion into Genetics

◮ locus vs. gene

◮ allele

◮ diploidy

◮ homozygote – heterozygote

◮ dominant – recessive

◮ autosome – sex chromosome

◮ female X,(inactive)X – male X,Y

◮ epistatic – hypostatic

◮ pleiotrophic effect

Cat Coat – Color, Pattern and Genetics

Page 6: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The W “White” Locus

◮ “dominant white” (W-locus)

or “piebald-spotted” (S-locus)

◮ dorso-ventral migration ofmelanoblasts

◮ allels: W, ws , w+

◮ W – (dominant) white

◮ piebald spotted phenotypes

wsws – more than 50% white

wsw+ – less than 50% white

◮ w+w+ – completely pigmented

Dysfunction in dorso-ventral melanoblast migration is the source ofwhite spotts and patches.

Cat Coat – Color, Pattern and Genetics

Page 7: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Molecular Basis of “white” Alleles

◮ gene kit: tyrosine-protein kinase and transmembrane receptor

◮ ligand: stem cell factor (MGF)

◮ relevant for skin and eye color, hearing ability

◮ temporal and tissue-specific expression

◮ retrovirus FERV (feline endogenous retrovirus)

◮ ws – retrovirus insertion in intron 1 of kit

◮ W – only LTR of retrovirus in intron 1 of kit

Cat Coat – Color, Pattern and Genetics

Page 8: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Piebald-Spotted Phenotypes in Rats (H locus)

“irish” “berkshire” “hooded”

Cat Coat – Color, Pattern and Genetics

Page 9: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

“Dominant white” Phenotype and Eye ColorHair, skin and eye color depend on the function of kit.

“blue-eyed” “odd-eyed” “orange-eyed”

Dominant White cats with odd-eye color are usually deaf on theear close the the blue eye.

Cat Coat – Color, Pattern and Genetics

Page 10: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

How Hair Gets Color – Pigment Chemistry

Eumelanin

Pheomelanin

Cat Coat – Color, Pattern and Genetics

Page 11: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The B “black” Locus

◮ eumelanin production

◮ alleles: B, b, bl

◮ B – black

◮ bb – brown, “chocolate”

◮ blbl – light brown, “cinnamon”

Solid black cats might get a brownishtinge to their fur if the diet is deficient intyrosine.

Cat Coat – Color, Pattern and Genetics

Page 12: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

the O “orange” Locus◮ pheomelanin production

◮ alleles: O, o

◮ O is located on the X chromosome

→ sex-linked

◮ males are XY

XOY – orange (no “black”)

XoY – no orange (“black”)

◮ females are XX

◮ one X is inactivated

◮ X inactivation differs from cell tocell

XOXO – orange (no “black”)

XoXo – no orange (“black”)

XOXo – orange - black mixed

Cat Coat – Color, Pattern and Genetics

Page 13: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

“Gluckskatzen” und Co.

Tortoiseshell

◮ a XOXo female cat

◮ solid color, no spotting

◮ orange where Xo inactive

◮ black where XO is inactive

Calico

◮ an XOXo female cat

and piebald-spotted

◮ shows patches of orange

◮ and patches of black

◮ where she is not white

◮ “Gluckskatze”

Cat Coat – Color, Pattern and Genetics

Page 14: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The D “dilution” Locus

◮ pigment density

◮ alleles: D, d

◮ D – full density

◮ dd – diluted

◮ dilution turns

black → blue

chocolate → lilac

cinnamon → fawn

orange → cream

Cat Coat – Color, Pattern and Genetics

Page 15: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Summary of Solid Colors

Cat Coat – Color, Pattern and Genetics

Page 16: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The C “color” Locus

◮ codes the tyrosinase gene

first step in melanin synthesis

◮ allels: C, cb, cs , c

◮ temerature-sensitive variants

◮ C is completely dominant

◮ C > cb = cs > c

◮ C – full color

◮ cscs – Siamese/Pointed

◮ cbcs – Tonkinese/Mink

◮ cbcb – Burmese/Seal

◮ cc – albino white

Complete dysfunction of tyrosinase on both alleles results in nopigment at all. An albino white cat has pale blue or pinkish eyes.

Cat Coat – Color, Pattern and Genetics

Page 17: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The A “agouti” Locus◮ transient inhibition of pigment

production

◮ during hair growth

◮ causes bands of lighter color alongthe hair

◮ allele: A, a

◮ A – agouti bands

◮ aa – no agouti bands

◮ undercoat has color of bands

◮ banding pattern◮ smoked◮ shaded◮ tipped◮ tabby

Agouti hair banding is required to make patterns visible.

Cat Coat – Color, Pattern and Genetics

Page 18: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The I “inhibition” Locus

◮ Melanin inhibition

◮ seen in agouti banding of tabbies

◮ allele: I, i

◮ bands of lighter color

◮ I – white bands

◮ ii – yellow bands

◮ undercoat has color of bands

tabby shaded

yellow brown goldenwhite grey silver

Cat Coat – Color, Pattern and Genetics

Page 19: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

The Ta “tabby” and Ti “ticked” Locus

◮ alternate ticked and solid color hair

◮ causing formation of patterns

◮ alleles: TaM , tab

◮ TaM – mackerel (getigert)

◮ tab,tab – bloched (gestromt)

◮ alleles: Tia, Ti+

◮ Tia – Abyssinian (ticked allover)

◮ Tia,Ti+ (stripes on face, legs andtail)

◮ Ti+ – non-Abyssinian

◮ Ti is epistatic to Ta

These cats are back/brown (B), agouti (A), golden (ii) tabbies.

Cat Coat – Color, Pattern and Genetics

Page 20: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

Modifier of Tabby◮ tagpep and Edr3

◮ allel

◮ mackerel → dots

◮ bloched → spots

◮ bloched → rosetted

cheetah (Gepard) and king cheetah

Cat Coat – Color, Pattern and Genetics

Page 21: Cat Coat – Color, Pattern and Genetics · Cat Coat – Color, Pattern and Genetics Sonja Prohaska Computational EvoDevo UniversityofLeipzig June 10, 2016 CatCoat–Color,Patternand

References

David et al. Endogenous Retrovirus Insertion in the KIT Oncogene

Determines White and White spotting in Domestic Cats. G3(Bethesda). 2014; 4(10):1881-91.

Eizirik et al. Defining and Mapping Mammalian Coat Pattern

Genes: Multiple Genomic Regions Implicated in Domestic Cat

Stripes and Spots. Genetics. 2010; 184:267-275.

Kaelin et al. Specifying and Sustaining Pigmentation Patterns in

Domestic and Wild Cats. Science. 2012; 337(6101):1536-1541.

Cat Coat – Color, Pattern and Genetics