BF, Dept. of Animal Science, Ljubljana (BFZOO)
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Karakterizacija mišjih zarodkov s popolnim izničenjem holesterogenega gena citokrom P450 lanosterol 14[alfa]-demetilaze (Cyp51)Keber, Rok, dipl.biol. ...Gen Cyp51 kodira encim lanosterol 14[alf]-demetilazo, ki sodeluje pri enem izmed ključnih korakov holesterolne biosinteze. Holesterol je pomembna komponenta membran, prekuroz za sintezo steroidnih ... hormonov in žolčnih kislin ter aktivator morfogenetske poti sonic hedgehog. Kljub temu, da ima gen Cyp51 več pomembnih funkcij, njegova dejanska vloga in vivo še ni bila pojasnjena. Da bi preučili vlogo gena Cyp51 med razvojem zarodka smo razvili transgeni mišji model s popolnim izničenjem tega gena. Zaradi popolne okvare funkcije encima CYP51 je v Cyp51 [gor-I-] zarodkih prišlo do kopičenja substratov tega encima ter odsotnosti sterolnih produktov. Pri Cyp51[gor-I-]zarodkih je prišlo do podkožnega edema, skrajšane spodnje ćeljusti, ter deformacij repa in okončin. Histološka analiza je pokazala tudi nepravilnosti v razvoju srca in možgan. Cyp51[gor-I-] zarodki so odmrli pri petnajstem dnevu razvoja. Podkožni edem še ni bil opisan pri nobenem od mišjih modelov z izničenim genom za sintezo holesterola. Predvidevamo, da edem nastane kot posledica nepravilnega delovanja srca, kar potrjuje tudi histološka analiza. Naš živalski model s popolnim izničenjem gena Cyp51 razkriva esencialno vlogo tega gena med razvojem zarodka. Model lahko služi kot orodje za raziskovanje človeških genetskih bolezni z okvarami v sintezi holesterola.Source: 2. Kolokvij iz genetike, Piran, 16. september 2011 [Elektronski vir] (Str. 22-28)Type of material - conference contributionPublish date - 2011Language - slovenianCOBISS.SI-ID - 2929544
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Keber, Rok, dipl.biol. | 29432 |
Motaln, Helena | 21397 |
Wagner, Kay D. | |
Debeljak, Nataša | 18622 |
Rassoulzadegan, Minoo | |
Ačimovič, Jure | 28352 |
Rozman, Damjana, 1960- | 06013 |
Horvat, Simon | 10412 |
Source: Personal bibliographies
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