Craniofacial exam 1 Flashcards
(164 cards)
proteins can be turned on and off
aka?
on- phosphorylated
off- dephosphorylated
proteins
complex, 3D molecules
essential for normal human structure and function.
composed of chains of amino acid.
partially or completely folded to determine shape.
(20 amino acids and each protein had unique amino acid chain and unique shape)
humans produce ~30k proteins
the blueprint for making a human?
DNA
DNA - coiled ladder shape
- rungs..
composed of nucleotides
two nucleotides pair to form each rung.
Types of nucleotides
- adenine
- guanine
- thymine
- cytosine
which nucleotides pair together?
cytosine-guanine
adenine-thymine
where is most of our DNA found?
in the nuclei of all our cells
- but also found in mitochondria
components of a gene
- promoter (starting point for gene’s activity)
- coding region - exon (codes for specific amino acid. sequence of 3 nucleotides)
- Introns (non-coding DNA between exons
98% of DNA is what?
- Non-coding DNA
How many human genes?
20k to 25k
Non-coding DNA
- intons (sections within genes)
- also sequences between genes
- function isn’t completely understood
- some play role in gene expression
What are variations of a gene?
alleles
RNA
- copies the protein recipe from the gene.
- RNA -> single strand of nucleotide
- Uracil replaces thymine
RNA protein copying process
- DNA unwound
- 2 pairs separate
- one side as template
- enzyme matches new nucleotides to appropriate partner on DNA (This is called transcription)
- splices out interon.
- binds nucleotides into a strand (mRNA)
- mRNA exits nucleus and travels to ribosome
- ribosome makes the protein.
What is transcription?
- This is started in the nucleus
- making of mRNA
What is translation?
This is the baking.
- the making of the protein
- in the ribosome
Making of the protein
- made by the ribosome
- tRNA supplies amino acid to the ribosome
- ribosome assembles them according to recipe
- this is called translation ***
what are chromosomes?
strands of DNA and associated proteins.
- compact way to protect, organize and package DNA into the cell.
- 46 total chromosomes in each cell.
- 23 pairs (22 autosomes and 1 sex chromosome)
- x-shaped
Chromosome shape
x shaped central narrowing -> centromere p - short arms q - long arms Bands along the arms. These bands are numbered
Gene location specified by…
chromosome number, arm, and band number or range
ex. FOXP2 gene - 7q31
Mitochondrial DNA
located in each cell’s mitochondria
contains 37 genes
genes code for enzymes essential for mitochondrial function
Gene mutations
- affect a single gene
- changes nucleotide sequence
- occur in two ways
- results in incorrect or non-functional protein.
two ways gene mutations occur
hereditary - present throughout lifetime and in every cell.
acquired - caused by environmental factors or error in DNA copying during cell division
Types of mutations
- substitutions - one nucleotide replaced by another.
- insertion of nucleotide
- deletion of nucleotide