RNA types
What are RNA genes?
genes that make a functional noncoding RNA (ncRNA) as their end product
What is a ribosomopathy?
Diseases caused by mutations of ribosomal proteins = changes in the structure/function of ribosomal components
What is the human genome project?
obtained the complete DNA sequence of the human nuclear genome
but not all regions of DNA were sequencing
What movements characterize Huntington Disease?
Involuntary and abnormal movements = Huntington's CHOREA
What is the pattern of inheritance of 5q minus syndrome (trick)
somatic mutation (after conception)
What are transposons?
Jumping genes; mobile DNA elements that are able to migrate from one location in the genome to another
Which area of your body is most affected by ribosomopathies?
bone marrow
What is the primary goal of ENCODE (Encyclopedia of DNA elements)?
to determine the role of the remaining component of the genome (not sequenced by human genome project), much of which was traditionally regarded as "junk"
How do transposons play a role in hemophilia?
transposons insert where they're not supposed to be --> inactivates clotting factor 8 = hemophilia = excess bleeding
What is the mutation and pattern of inheritance of Huntington Disease?
Mutations in Huntingtin gene (increased CAG repeats)
Autosomal dominant inheritance
How do microRNAs participate in gene regulation?
RNA interference
What is the pattern of inheritance of Diamond-Blackfan anemia?
What is RNA interference?
microRNAs bind to an mRNA molecule, inhibiting translation or degrading mRNA = gene silencing
How does miRNA overexpression lead to leukemia?
miRNA overexpression of miR-17-92 (whose function is mainly to stop the differentiation of RBCs) = dysregulation of cell cycle associated genes = leukemia
What are some symptoms of Charcot-Marie-Tooth disease?
curled toes
decreased ability to run
foot drop, gait change
frequent tripping or falling
decreased sensation or a loss of feeling in your legs and feet
What two categories are repetitive DNA sequences divided into?
Functional multi-copy genes
RS with uncertain function
What happens in 5q minus syndrome?
deletion of genes in the long q arm of the 5th chromosome = block in erythroid differentiation
What happens in ribosomal haploinsufficiency?
Disrupted ribosome biogenesis (reduced translation of cellular mRNAs) --> accumulation of free ribosomal proteins
What are the non-hematological features of diamond blackfan anemia?
short stature, craniofacial, skeletal, and urogenital anomalies
increased incidence of AML and osteogenic sarcoma
What are peripheral neuropathies?
tRNA mutations --> defects in neuronal proteins --> myelin sheath or axonal damage
What are some of the functions of long noncoding RNAs (long ncRNAs)?
regulation of allelic expression (X chromosome inactivation, imprinting), development (lineage commitment, myogenesis) with disease states (cancer, muscular dystrophy, heart failure)
What is the hematological/marrow difference between diamond-blackfan anemia and 5q minus syndrome?
SORRY GUYS
DBFA: hypoproductive anemia, often with macrocytosis
5q: macrocytic anemia, hypolobulated (smaller) platelets
Why is bone marrow most affected by ribosomopathies?
Because ribosomopathies are diseases caused by mutations in ribosomal components, and bone marrow is one of the most transcriptionally active organs, making protein all the time required for blood cells
What are some conditions related to transposable elements?
What brain region is affected in Huntingtin disease (sorry guys idk if this is hard just tell me to bffr)
Basal ganglia
HD is characterized by adult-onsent degeneration of basal ganglia