Term
| Kit Ligand (SCF)/MC1R causes what disorder and affects which breeds of dogs? |
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Definition
- Squamous cell carcinoma of the digit
- large black dogs (Giant Schnauzer, Briard, Standard poodle
- MC1R (R306X) mutation, promotes light coat color in many breeds (protects light colored poodles from SCC)
- MC1R (cancer associated gene) and KIT/KITLG interaction and keratinocyte carcinogenesis
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Term
| Waardenburg Syndromes- How many types and genes affected? |
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Definition
- 4 Types
- WS type 1 (PAX3)- congenital deafness, blue eyes, dystopia canthorum
- WS type 1 (MITF, SLUG/SNA12, SOX10, EDN3, EDNRB)- congenital deafness, blue eyes
- WS type 3 (PAX3)- limb deformities
- WS type 4 (SOX10, EDN3, EDNRB)- Aganglionic megacolon (Hirshsprung disease)
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Term
| Waardenburg syndrome in horses (which breed horses affected?) |
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Definition
- WS type-2
- Paint horses (gene ENDRB)- paint horses (white patches, blue eyes, deafness
- Splashed white horses (genes PAX3 and/or MITF)
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Term
| Waardenburg syndrome- How is the ear involved? |
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Definition
| Melanocytes present in cochlea (stria vascularis) affected and cause deafness |
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Term
| Disorder of melanocyte stem cells in gray horse cause by which gene? |
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Definition
- Syntaxin 17
- autosomal dominant (gray locus (G)
- Gene: STX17, 4.6 kb duplication, regulatory acting
- syntaxin 17, snare family, membrane protein, ER and golgi trafficking
- graying to white coloration by 6-8 years with speckling and blood spots
- 70-80% develop melanomas by 15 years
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