{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KATNIP (the protein encoded by KIAA0556) is emerging as a microtubule‐associated regulator prominently localized at the base of primary cilia. Functional studies demonstrate that KATNIP binds directly to microtubules in vitro and appears to stabilize microtubule networks, in part by interacting with the p60/p80 katanin complex that normally severs microtubules. This interaction suggests that KATNIP contributes to fine‐tuning microtubule dynamics and hence the regulation of ciliogenesis. In patients carrying deleterious mutations in KIAA0556, a subtle yet significant ciliary dysfunction is observed that is consistent with the typical, although relatively mild, features of Joubert syndrome; indeed, mutations in this gene have been repeatedly identified in multiplex families, either as a sole pathogenic mutation or in conjunction with mutations in other ciliopathy‐associated genes (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Moreover, in non‐human studies, candidate mutations in KIAA0556 have been implicated in traits such as milk yield in cattle, underscoring the broader biological importance of microtubule regulation in diverse tissue types."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Comparative mapping studies further support the conserved genomic positioning of KIAA0556, suggesting evolutionary constraints that likely mirror its functional relevance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Finally, sporadic somatic mutations in KIAA0556 have been identified in the context of acquired drug resistance in certain cancers"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", which may reflect additional roles of microtubule dynamics in cellular homeostasis. Collectively, these findings indicate that KATNIP is a critical modulator of microtubule and ciliary function whose disruption leads to ciliopathy phenotypes and may influence other biological processes through its impact on cytoskeletal dynamics.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13059-015-0858-z"}], "href": "https://doi.org/10.1186/s13059-015-0858-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26714646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26714646"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Susanne Roosing, Rasim O Rosti, Basak Rosti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-016-1689-z"}], "href": "https://doi.org/10.1007/s00439-016-1689-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27245168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27245168"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Edmund S Cauley, Ahlam Hamed, Inaam N Mohamed, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-019-00577-2"}], "href": "https://doi.org/10.1007/s10048-019-00577-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30982090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30982090"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Pediatr (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12887-020-2019-0"}], "href": "https://doi.org/10.1186/s12887-020-2019-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32164589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32164589"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Edwardo G M Reynolds, Thomas Lopdell, Yu Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Sel Evol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12711-021-00694-3"}], "href": "https://doi.org/10.1186/s12711-021-00694-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35073835"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35073835"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autozygome and high throughput confirmation of disease genes candidacy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-018-0138-x"}], "href": "https://doi.org/10.1038/s41436-018-0138-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30237576"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30237576"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "T Goldammer, S R Kata, R M Brunner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comparative mapping of five coding DNA sequences on cattle chromosomes 7 and 25."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cytogenet Cell Genet (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000059345"}], "href": "https://doi.org/10.1159/000059345"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12063399"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12063399"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jung Yong Hong, Xiao Liu, Mao Mao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0069752"}], "href": "https://doi.org/10.1371/journal.pone.0069752"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23922791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23922791"}]}]}]}