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#mutation

32 public questions tagged with this topic.

Which evolutionary force introduces new genetic variations through changes in DNA sequences?

Mutation introduces new genetic variations by altering DNA sequences. This follows from NCERT principle where the relation explains the outcome clearly for students in simple steps.

Ref: NCERT Biology Textbook for Class XI and XII (Zoology section), Chapter: Principles of Inheritance, Molecular Basis of Inheritance and Biotechnology, Topic: Genetics, DNA techniques and applications.

Which of the following statements about mutation is incorrect?

Not all mutations are inherited; only those in germ lls can be passed to the next generation. This follows from NCERT principle where the relation explains the outcome clearly for students in simple steps.

Ref: NCERT Biology Textbook for Class XI and XII (Botany section), Chapter: Morphology and Anatomy of Flowering Plants, Topic: Plant structure and tissue systems.

Counting factor mutation (smlA-) leads to:

SmlA functions as negative regulator of counting factor production. In smlA null cells, countin and associated cf proteins accumulate to supranormal levels in conditioned medium, causing premature fragmentation of aggregation streams. Cells interpret elevated CF as indicator that aggregate is already too large, triggering increased random motility and reduced adhesion that breaks territories into numerous small mounds. Resulting fruiting bodies are diminutive with fewer spores each, though total spore number remains similar. This phenotype demonstrated counting factor as size-regulating quorum

Ref: PNAS, Counting factor complex and smlA- mutants - overproduction leading to smaller aggregates.

Mutation in GNOM causes:

GNOM encodes ARF-GEF controlling formation of COPI-independent transport vesicles that recycle PIN auxin carriers from endosomes to basal and apical plasma membrane domains. Loss-of-function gnom alleles accumulate PINs in intracellular agglomerations, abolish differential auxin maxima at embryo apex and root pole, and disrupt apical-basal axis specification. Resultant embryos display abnormal zygote division, fused collar-like cotyledons, complete loss of axial distinctions, root pole absence, and dwarf stature phenocopying chemical inhibition with NPA. Hence vesicle trafficking machinery tra

Ref: Mayer et al., Development 1993; Gilbert, Developmental Biology, Chap 20: GNOM mutation causes loss of apical-basal polarity.

Somaclonal variation refers to:

Somaclonal variation denotes phenotypic and genetic variability observed among plants regenerated from somatic cells in tissue culture, term introduced by Larkin and Scowcroft 1981 to describe variation in clones derived from same explant. Unlike seed derived variation, somaclonal variation originates from stress imposed by in vitro environment high concentrations of synthetic auxins especially 2,4-D, rapid cell cycles, oxidative burst from autoclaved medium components, and epigenetic reprogramming during dedifferentiation redifferentiation. Underlying mechanisms include point mutations due to

Ref: Larkin & Scowcroft 1981 somaclonal variation; NCBI Plants review somaclonal.

What would be the expected effect of a mutation that prevents dynein’s interaction with dynactin?

Cytoplasmic dynein requires adaptor complexes to achieve efficient cargo transport because motor alone exhibits low processivity and weak cargo binding. Dynactin is twenty three subunit complex containing short Arp1 filament, beta-spectrin adaptor, p150Glued subunit with CAP-Gly microtubule-binding domain and coiled-coil dimerization region that binds dynein intermediate chain. Interaction via extended CC1 fragment of p150Glued locks dynein-dynactin together, increasing run length from submicron to several microns by coordinating two motor domains and suppressing detachment. Preventing this in

Ref: Schroer Annu Rev Cell Dev Biol; dynactin p150Glued enhances dynein processivity and cargo binding.

What happens when the transferrin receptor is mutated and cannot bind Fe³⁺ at acidic pH?

Iron uptake in proliferating cells depends on transferrin receptor mediated endocytosis tightly coupled to endosomal acidification. At extracellular pH 7.4 holo transferrin carrying two ferric ions binds transferrin receptor 1 homodimer with nanomolar affinity, clusters via AP2 clathrin adaptor and internalizes into early endosomes. Vacuolar ATPase acidifies lumen to about pH 5.5, protonation of transferrin histidines and nearby receptor residues induces conformational opening of transferrin lobes, reducing Fe3+ affinity by orders of magnitude and releasing ferric iron while apo transferrin re

Ref: Alberts et al., Molecular Biology of the Cell, 7th ed., Chapter 13: Endocytosis and Transferrin Iron Transport.

What happens if the Rb protein is mutated and cannot be phosphorylated?

Retinoblastoma protein Rb functions as central gatekeeper integrating mitogenic signaling with E2F transcription program controlling G1/S restriction point. In quiescent or early G1 cells, Rb exists in hypophosphorylated state, binding E2F1, E2F2, E2F3 through pocket domains A and B, simultaneously recruiting histone deacetylases, SWI/SNF chromatin remodelers, and Polycomb complexes to repress promoters of cyclin E, cyclin A, thymidine kinase, dihydrofolate reductase, and DNA polymerase subunits. Mitogens induce cyclin D-CDK4/6 synthesis downstream of Ras-MAPK and PI3K pathways, which initiate

Ref: Weinberg, Biology of Cancer, 2nd ed., Chapter 8: Rb Pathway. NCBI Bookshelf: Cell Cycle Control.

What happens if p53 is mutated?

Functional p53 integrates stress signals, including DNA damage, oncogene activation, and hypoxia, to decide between cell cycle arrest, senescence, or apoptosis. Under normal conditions, wild-type p53 accumulates after ATM phosphorylates serine 15 and CHK2 phosphorylates serine 20, displacing E3 ubiquitin ligase MDM2 that normally targets p53 for proteasomal degradation. Transcriptional program includes CDKN1A encoding p21 inhibitor of CDK2-cyclin E and CDK4-cyclin D, causing Rb to remain hypophosphorylated and E2F-dependent S-phase entry genes repressed, imposing G1 arrest to allow repair. If

Ref: Vogelstein et al., Nature 2000, Surfing p53 Network; Levine & Oren, Nature Rev Cancer 2009, p53 Mutations.