Transcription and Variants M2C

transcription requires:

promotor and multiple TFs (transcription initiation complex)

RNA pol II uses ____ as a template to create ____

DNA, mRNA

RNA pol reads along the ______ strand to create an _____ copy of the ______ strand.

non-coding, RNA, coding

mRNA is synthesized from:

5’ to 3’

template is read from:

3’ to 5’

RNA polymerase will transcribe:

introns, untranslated regions, and basepairs beyond the end of the gene

a transcript is the parts of a gene that will end up being _____ into a _____.

sequenced, protein

genes can produce more than one _____ depending on ______ ______.

transcript, alternative splicing

the transcript that is seen can be influenced by:

time in development, tissue type, environmental factors

predominant/common transcript in the body

canonical transcript

alternatively spliced RNA sequences that are less common, expressed in specific tissues, or at specific timepoints in development

alternate transcript

in genetic testing reports, variants are reported where the patient’s DNA sequence varies from the ______ transcript.

canonical RNA

clinical GCs are not responsible for determining the appropriate way to look at a gene’s ______

sequence

silent mutation

amino acid remains the same

nonsense mutation

change to stop codon

swaps one amino acid for a new one with very similar chemical properties

conservative missense mutation

a DNA change that replaces one amino acid in a protein with a chemically different amino acid

non-conservative mis

causes frameshift

out of frame indel

doesn’t cause reading frame to shift

in-frame indel

when may a nonsense or frameshift variant be benign?

at end of protein

when can a silent mutation cause disease?

when it creates or destroys a splice site

effects of TF pathogenic variant:

• no transcription

• excess transcription

• multi system disease

• incompatibility with life

conditions associated with malfunctioning TFs

• congenital heart disease

• DiGeorge/VeloCardioFacial Syndrome

• Holt-Oram

• Pax6-related disorders

• pituitary hypoplasia

• some forms of mito disease

most cases of CHD are considered ____.

multifactorial

in isolated CHD, many genes identified as causative are ______ _____ and other genes that regulate other genes.

transcription factors