Medical Knowledge Cockpit albinism

• melanocyte development and pigmentation pathway
  species not specified one gene

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MITF

Somatic tumors

melanoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

melanogenesis-associated transcription factor

Chromosome banding

3p14.1

Cancer molecular gen.

Dom

Mutation type

A

Other syndrome disease

Waardenburg syndrome type 2, Tietz syndrome

OCA2

• Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
• A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
• A global view of the OCA2-HERC2 region and pigmentation

TYR

• Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF
• Novel MITF targets identified using a two-step DNA microarray strategy

TYRP1

• Tyrp1 and oculocutaneous albinism type 3
• Positive and negative elements regulate a melanocyte-specific promoter
• Downstream region of the human tyrosinase-related protein gene enhances its promoter activity

SLC45A2

• Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
• Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes

SLC24A5

• Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
• Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians

GPR143

• Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

MITF

• The microphthalmia transcription factor reulates expression of the tartrate-resistant acid phosphatase gene during terminal differentiation of osteoclasts
• Novel MITF targets identified using a two-step DNA microarray strategy
• BCL2 regulation by the melanocyte master regulator MITF modulates lineage survival and melanoma cell viability
• VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family
• Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas

MC1R

• Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors
• Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans
• Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin
• Anesthetic requirement is increased in redheads
• Increased sensitivity to thermal pain and reduced subcutaneous lidocaine efficacy in redheads