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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.

Where do melanocytes originate?

Melanocytes originate in the neural crest.

When do melanocytes migrate?

Melanocytes migrate in the 8th week of fetal development.

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.

What receptor-ligand interactions are required for melanocyte survival and migration in the CNS

In the CNS endothelin B receptors interact with endothelin 3.

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.

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.

Mutation in the KIT gene leads to what disease?

Mutation in KIT gene results in lack of migration of melanocytes leading to piebaldism.

At birth where are dermal melanocytes found?

Dermal melanocytes are found in the head, neck, distal extremities, and the presacral area.

What diseases result from dermal melanocytosis?

Dermal melanocytosis results in nevus of Ota, nevus of Ito, mongolian spots, and blue nevi.

What connects melanocytes to keratinocytes?

Cadherins connect melanocytes to keratinocytes.

Name two populations of melanocytes in the skin.

1. Interfollicular melanocytes


2. Hair matrix melanocytes

What determines skin color?

The quantity and quality of melanin production determines skin color.

What stimulates melanocyte activity?

UV light, estrogens, progesterone, and certain medications stimulate melanocyte activity.

What unique secretory organelles are found in melanocytes?

Melanosomes are unique secretory organelles found in melanocytes.

What secretory organelles resemble melanosomes and share many of the same biosynthetic pathways.

Lysosomes resemble melanosomes and share many of the same biosynthetic pathways.

Name the enzyme that catalyses the conversion of tyrosine-->dopa-->dopaquinone.

Tyrosine catalyses the conversion of tyrosine-->dopa-->dopaquinone.

What element is bound to the enzyme tyrosinase?

Copper is bound to tyrosinase.

Defects in tyrosinase result in what disease?

Defects in tyrosinase result in OCA-1.

Name a chemical used in cosmetic products that competitively inhibits tyrosinase.

Hydroquinone competitively inhibits tyrosinase.

Name an amino acid that competitively inhibits tyrosinase.

L-phenylalanine competitively inhibits tyrosinase.

What does the P protein do?

The P protein is involved in processing and traffiking tyrosinase.

What disease results from a mutation in the P protein?

Mutations in the P protein result in OCA 2.

Name the two major types of melanin.

1. Eumelanin


2. Pheomelanin

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.

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.

Basic pH favors which type of melanin formation?

Basic pH favors the formation of eumelanin.

How do eumelanosomes differ in appearance from pheomelanosomes?

Eumelanosomes are oval with various stages of pigment production. Pheomelanosomes are round and contain vesicular bodies.

What is the protein product of the POMC gene?

MSH is the protein product of the POMC gene.

Mutations in the POMC gene result in what phenotype?

Mutation in the POMC gene results in obesity, adrenal insufficiency, and red hair.

Mutation in the MC1-R gene results in what phenotype?

Mutation in the MC1-R gene results in red hair.

Mutation in the MC4-R gene results in what phenotype?

Mutation in the MC4-R gene results in morbid obesity.

What causes the red hair phenotype?

Most red hair is due to four loss of function mutations in the MC1-R gene.