1 Q PAX Ophthalmicana ? ? ? With respect to genetics, to what does the term Central Dogma refer? 2 A PAX Ophthalmicana DNA RNA Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein 3 Q PAX Ophthalmicana DNA ? RNA Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code 4 A PAX Ophthalmicana DNA Transcription RNA Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code 5 Q PAX Ophthalmicana DNA Transcription RNA ? Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 6 A PAX Ophthalmicana DNA Transcription RNA Translation Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 7 Q PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription RNA Translation Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 8 A PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Translation Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 9 Q PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Do transcriptions factors play an important role in the genetic process? Translation Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 10 A PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Do transcriptions factors play an important role in the genetic process? Translation Indeed they do. In fact, about 10% of all genes in humans code for transcription factors! Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 11 Q PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 12 A PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 13 Q PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein The Fundamentals book lists three transcription-factor (genes) With respect thatto genetics, are especially to what important does forthe the term eye Central—what are Dogma they? refer? It refers to the-- two steps involved in transforming genetic information into protein: --The first ste--p is the transcription of DNA code into RNA code; fo llowed by --the translation-- of the RNA code into a protein 14 A PAX Ophthalmicana DNA In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein The Fundamentals book lists three transcription-factor (genes) With respect thatto genetics, are especially to what important does forthe the term eye Central—what are Dogma they? refer? It refers to the-- PAX2two steps involved in transforming genetic information into protein: --The first ste--pPAX3 is the transcription of DNA code into RNA code; fo llowed by --the translation--PAX6of the RNA code into a protein 15 Q PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 16 A PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ The Fundamentals book refers to PAX genes both as ‘paired homeobox’ and ‘paired box’ genes The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 17 Q PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ Generally speaking, what are PAX genes involved in? The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 18 A PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ Generally speaking, what are PAX genes involved in? Morphogenesis The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 19 Q PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ Generally speaking, what are PAX genes involved in? Morphogenesis Of these three PAX genes, which is most important to the development of the eye? The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2? --PAX3? --PAX6? 20 A PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ Generally speaking, what are PAX genes involved in? Morphogenesis Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6! 21 PAX Ophthalmicana In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’ Generally speaking, what are PAX genes involved in? Morphogenesis Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6! Next let’s take a closer look at PAX6 22 Q PAX Ophthalmicana There are four ocular abnormalities attributed to the PAX6 gene.