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unbibiumAt the 2006 NOAH conference, I spent a lot of time attending panels and presentations by opthamologists and geneticists. Here are the highlights of the notes I took:
1. The melanocyte is the organelle that generates melanin and delivers it to where it's useful. What interested me was that it has a shape with many tentacles coming out of it.
2. There are four different genetic causes of ocular-cutaneous albinism (OCA), which is what I have. There is only one form of ocular albinism (OA), which affects only the eyes.
3. Ocular albinism is linked to the X-chromosome, which means practically no females develop it -- they have two X-chromosomes, and both would have to have the OA gene. Essentially, a male who has it would have to find a female who carries it. Carriers have subtle differences in the retina that can be examined.
4. OCA2 is the variant that occurs most often in people of African, native American, or Indonesian descent. They've found a single common ancestor for the African variant.
5. OCA4 is the most recently found, hence the highest number of the four variants. It's similar in phenotype to OCA2, and is found in Japan.
6. All these genes interact with other genes that affect skin and hair color, including a recently-found "Golden gene" which occurs only in Europeans. I'll look it up on Wikipedia when I get home.
7. They have not found any pathogen that might cause a blond actor to turn into an evil albino monk.
8. New gene therapies will take advantage of the fact that all albinism variants are recessive genes; they'll only have to repair one copy of the gene. I think I missed a detail of that, but all I know is that it works in mice.
9. Another thing I'll need to look up: "zinc finger". Then the sentence "16 ZFN to 8 target sites have been cloned" will make sense.
More later, including some information on hermansky-pudlak syndrome.
1. The melanocyte is the organelle that generates melanin and delivers it to where it's useful. What interested me was that it has a shape with many tentacles coming out of it.
2. There are four different genetic causes of ocular-cutaneous albinism (OCA), which is what I have. There is only one form of ocular albinism (OA), which affects only the eyes.
3. Ocular albinism is linked to the X-chromosome, which means practically no females develop it -- they have two X-chromosomes, and both would have to have the OA gene. Essentially, a male who has it would have to find a female who carries it. Carriers have subtle differences in the retina that can be examined.
4. OCA2 is the variant that occurs most often in people of African, native American, or Indonesian descent. They've found a single common ancestor for the African variant.
5. OCA4 is the most recently found, hence the highest number of the four variants. It's similar in phenotype to OCA2, and is found in Japan.
6. All these genes interact with other genes that affect skin and hair color, including a recently-found "Golden gene" which occurs only in Europeans. I'll look it up on Wikipedia when I get home.
7. They have not found any pathogen that might cause a blond actor to turn into an evil albino monk.
8. New gene therapies will take advantage of the fact that all albinism variants are recessive genes; they'll only have to repair one copy of the gene. I think I missed a detail of that, but all I know is that it works in mice.
9. Another thing I'll need to look up: "zinc finger". Then the sentence "16 ZFN to 8 target sites have been cloned" will make sense.
More later, including some information on hermansky-pudlak syndrome.
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no subject
Date: 2006-07-24 09:00 pm (UTC)no subject
Date: 2006-07-25 01:06 am (UTC)Thanks Bill Cosby!