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33 Cards in this Set
- Front
- Back
Name the pigment producing cells of the skin. |
Melanocytes are the pigment producing cells of the skin. |
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Where do melanocytes originate? |
Melanocytes originate in the neural crest. |
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When do melanocytes migrate? |
Melanocytes migrate in the 8th week of fetal development. |
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To what sites do melanocytes migrate? |
Melanocytes migrate to the basal layer of the epidermis, the hair matrices, the inner ear, the uveal tract, and the leptomeninges. |
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What receptor-ligand interactions are required for melanocyte survival and migration in the CNS |
In the CNS endothelin B receptors interact with endothelin 3. |
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What receptor-ligand interactions are required for melanocyte survival in the mesenchyme and final destination sites? |
The KIT receptor on melanoblasts and melanocytes interact with steel factor. |
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Mutations in EDN3 or EDNRB lead to lack of appropriate migration of melanocytes causing what disease? |
Mutations in EDN3 or EDNRB lead to Waardenburg type 4. |
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Mutation in the KIT gene leads to what disease? |
Mutation in KIT gene results in lack of migration of melanocytes leading to piebaldism. |
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At birth where are dermal melanocytes found? |
Dermal melanocytes are found in the head, neck, distal extremities, and the presacral area. |
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What diseases result from dermal melanocytosis? |
Dermal melanocytosis results in nevus of Ota, nevus of Ito, mongolian spots, and blue nevi. |
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What connects melanocytes to keratinocytes? |
Cadherins connect melanocytes to keratinocytes. |
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Name two populations of melanocytes in the skin. |
1. Interfollicular melanocytes 2. Hair matrix melanocytes |
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What determines skin color? |
The quantity and quality of melanin production determines skin color. |
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What stimulates melanocyte activity? |
UV light, estrogens, progesterone, and certain medications stimulate melanocyte activity. |
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What unique secretory organelles are found in melanocytes? |
Melanosomes are unique secretory organelles found in melanocytes. |
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What secretory organelles resemble melanosomes and share many of the same biosynthetic pathways. |
Lysosomes resemble melanosomes and share many of the same biosynthetic pathways. |
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Name the enzyme that catalyses the conversion of tyrosine-->dopa-->dopaquinone. |
Tyrosine catalyses the conversion of tyrosine-->dopa-->dopaquinone. |
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What element is bound to the enzyme tyrosinase? |
Copper is bound to tyrosinase. |
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Defects in tyrosinase result in what disease? |
Defects in tyrosinase result in OCA-1. |
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Name a chemical used in cosmetic products that competitively inhibits tyrosinase. |
Hydroquinone competitively inhibits tyrosinase. |
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Name an amino acid that competitively inhibits tyrosinase. |
L-phenylalanine competitively inhibits tyrosinase. |
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What does the P protein do? |
The P protein is involved in processing and traffiking tyrosinase. |
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What disease results from a mutation in the P protein? |
Mutations in the P protein result in OCA 2. |
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Name the two major types of melanin. |
1. Eumelanin 2. Pheomelanin |
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The binding of MSH to the MC1-R receptor on the melanocyte results in which type of melanin? |
The binding ot MSH to the MC1-R receptor results in the synthesis of eumelanin. |
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The binding of the agouti protein to the MC1-R receptor on the melanocyte results in which type of melanin? |
The binding of the agouti protein to the MC1-R receptor results in the synthesis of pheomelanin. |
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Basic pH favors which type of melanin formation? |
Basic pH favors the formation of eumelanin. |
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How do eumelanosomes differ in appearance from pheomelanosomes? |
Eumelanosomes are oval with various stages of pigment production. Pheomelanosomes are round and contain vesicular bodies. |
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What is the protein product of the POMC gene? |
MSH is the protein product of the POMC gene. |
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Mutations in the POMC gene result in what phenotype? |
Mutation in the POMC gene results in obesity, adrenal insufficiency, and red hair. |
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Mutation in the MC1-R gene results in what phenotype? |
Mutation in the MC1-R gene results in red hair. |
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Mutation in the MC4-R gene results in what phenotype? |
Mutation in the MC4-R gene results in morbid obesity. |
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What causes the red hair phenotype? |
Most red hair is due to four loss of function mutations in the MC1-R gene. |