Редактирование: QKI

Protein quaking (Hqk) (HqkI) [HKQ]

==Publications==

{{medline-entry
|title=Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22773346
|abstract=Successful aging (SA) is a multidimensional phenotype involving living to older age with high physical function, preserved cognition, and continued social engagement. Several domains underlying SA are heritable, and identifying health-promoting polymorphisms and their interactions with the environment could provide important information regarding the health of older adults. In the present study, we examined 263 cognitively intact Amish individuals age 80 and older (74 SA and 189 "normally aged") all of whom are part of a single 13-generation pedigree. A genome-wide association study of 630,309 autosomal single nucleotide polymorphisms (SNPs) was performed and analyzed for linkage using multipoint analyses and for association using the modified quasi-likelihood score test. There was evidence for linkage on 6q25-27 near the fragile site FRA6E region with a dominant model maximum multipoint heterogeneity LOD score = 3.2. The 1-LOD-down support interval for this linkage contained one SNP for which there was regionally significant evidence of association (rs205990, p = 2.36 × 10(-5)). This marker survived interval-wide Bonferroni correction for multiple testing and was located between the genes [[QKI]] and [[PDE10A]]. Other areas of chromosome 6q25-q27 (including the FRA6E region) contained several SNPs associated with SA (minimum p = 2.89 × 10(-6)). These findings suggest potentially novel genes in the 6q25-q27 region linked and associated with SA in the Amish; however, these findings should be verified in an independent replication cohort.
|mesh-terms=* Adult
* Aged
* Aged, 80 and over
* Aging
* Amish
* Chromosome Mapping
* Chromosomes, Human, Pair 6
* Dementia
* Female
* Genetic Linkage
* Genome-Wide Association Study
* Humans
* Incidence
* Indiana
* Lod Score
* Male
* Middle Aged
* Ohio
* Pedigree
* Phenotype
* Polymorphism, Single Nucleotide
* Prospective Studies

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705095
}}
{{medline-entry
|title=Neural cell type-specific expression of [[QKI]] proteins is altered in quakingviable mutant mice.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/8987822
|abstract=qkI, a newly cloned gene lying immediately proximal to the deletion in the quakingviable mutation, is transcribed into three messages of 5, 6, and 7 kb. Antibodies raised to the unique carboxy peptides of the resulting [[QKI]] proteins reveal that, in the nervous system, all three [[QKI]] proteins are expressed strongly in myelin-forming cells and also in astrocytes. Interestingly, individual isoforms show distinct intracellular distributions: [[QKI]]-6 and [[QKI]]-7 are localized to perikaryal cytoplasm, whereas [[QKI]]-5 invariably is restricted to the nucleus, consistent with the predicted role of [[QKI]] as an RNA-binding protein. In quakingviable mutants, which display severe dysmyelination, [[QKI]]-6 and [[QKI]]-7 are absent exclusively from myelin-forming cells. By contrast, [[QKI]]-5 is absent only in oligodendrocytes of severely affected tracts. These observations implicate [[QKI]] proteins as regulators of myelination and reveal key insights into the mechanisms of dysmyelination in the quakingviable mutant.
|mesh-terms=* Aging
* Animals
* Astrocytes
* Brain
* Demyelinating Diseases
* Immune Sera
* Isomerism
* Mice
* Mice, Quaking
* Myelin Sheath
* Neuroglia
* Neurons
* Oligodendroglia
* RNA, Messenger
* RNA-Binding Proteins
* Schwann Cells

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579212
}}