09MCB - haploinsuffiencey of Pax3 inherited as dominant...

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5/4/09 **p53** syndrome -abnormal condition due to genetics, development, chronic injury, etc. congenital defects -visible defects seen at birth due to any cause (genetic, developmental error…) pleiotropy -refers to the multiple structures effected by one gene or one mutant gene Haploinsufficiency -diploid organism only has a single functional copy of a gene (other is inactivated by mutation) & single functional copy doesn’t produce enough of a gene product (usually a protein) to bring about a wild- type condition, leading to abnormal or diseased state—responsible for some (not all) autosomal dominant disorders loss of function most haploinsuffcients are also recessive lethal Waardenburg, Greigs’ Pax6 gene heterozygous mice—abnormal eyes the eye gene—causes over-expression of eyes in flies (eye structures in legs) haploinsufficiency Waardenburg Syndrome
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Unformatted text preview: haploinsuffiencey of Pax3 inherited as dominant trait hair & eyes Greigs’ cephalopolysyndactyly 6 fingers grown together heterozygous for Gli3 relatively common birth defect—not fatal hemimelic (extra toes) extra thumb—mutation in Shh enhancer Anchondroplasia (dominant dwarfism) caused by activated form of FGF3 receptor premature ossification of growth plates dominant gain of function-mutations are genes expressed in ectopic location/gene products that are over-active hemimelic dwarfism dominant negative-mutatinos are lss of function alleles that effect wildtype gene products Marfan syndrome-effects fibrin protein in elastic connective tissue Causes of Birth Defects endocrine distruptors diethylstilbestrol (DES) 50s&60s—environmental estrogen prescribed for morning sickness abnormal development of baby environmental estrogens—...
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09MCB - haploinsuffiencey of Pax3 inherited as dominant...

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