Why loss of Y? A pan-cancer genome analysis of tumors with loss of Y chromosome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978323/

Loss of the Y chromosome (LoY) is frequently observed in somatic cells

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48 Chromosome
Cancer
RPS4Y1

https://en.m.wikipedia.org/wiki/XYYY_syndrome

https://en.m.wikipedia.org/wiki/XXXY_syndrome

https://en.m.wikipedia.org/wiki/XXYY_syndrome

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C9ORF72

Prion-like mechanisms in amyotrophic lateral sclerosis

most eukaryotes usually possess a single copy of the gene encoding the C9ORF72 protein, the eukaryotes Entamoeba and Trichomonas vaginalis possess multiple copies, suggestive of independent lineage-specific expansions in these species. The family is lost in most fungi (except Rhizopus) and plants.

Amino Acid Substitution

incorporation of phenylalanine instead of tryptophan. The resulting peptides are called W>F "substitutants". Such W>F substitutants are abundant in certain cancer types and have been associated with increased IDO1 expression. Functionally, W>F substitutants can impair protein activity.

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C9ORF72
Hexanucleotide
CREST

calcium-responsive transactivator (CREST)
encoding gene

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell‐Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979662/

Emerging mechanisms of molecular pathology in ALS

https://www.jci.org/articles/view/71601

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Mycoplasma fermentans infection induces human necrotic neuronal cell death via IFITM3-mediated amyloid-β (1–42) deposition

https://www.nature.com/articles/s41598-023-34105-y