{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:53Z","timestamp":1787028233745,"version":"build-2736575974"},"reference-count":65,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T00:00:00Z","timestamp":1663718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Michigan State University College of Veterinary Medicine","award":["T35 OD 016477"],"award-info":[{"award-number":["T35 OD 016477"]}]},{"name":"Berner-Garde Foundation","award":["T35 OD 016477"],"award-info":[{"award-number":["T35 OD 016477"]}]},{"name":"NIH","award":["T35 OD 016477"],"award-info":[{"award-number":["T35 OD 016477"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Bernese mountain dogs (BMDs), have an overall cancer incidence of 50%, half of which is comprised of an otherwise rare tumor, histiocytic sarcoma (HS). While recent studies have identified driver mutations in the MAPK pathway, identification of key predisposing genes has been elusive. Studies have identified several loci to be associated with predisposition to HS in BMDs, including near the MTAP\/CDKN2A region, but no causative coding variant has been identified. Here we report the presence of a coding polymorphism in the gene encoding FANCG, near the MTAP\/CDKN2A locus. This variant is in a conserved region of the protein and appears to be specific to BMDs. Canine fibroblasts derived from dogs homozygous for this variant are hypersensitive to cisplatin. We show this canine FANCG variant and a previously defined hypomorphic FANCG allele in humans impart similar defects in DNA repair. However, our data also indicate that this variant is neither necessary nor sufficient for the development of HS. Furthermore, BMDs homozygous for this FANCG allele display none of the characteristic phenotypes associated with Fanconi anemia (FA) such as anemia, short stature, infertility, or an earlier age of onset for HS. This is similar to findings in FA deficient mice, which do not develop overt FA without secondary genetic mutations that exacerbate the FA deficit. In sum, our data suggest that dogs with deficits in the FA pathway are, like mice, innately resistant to the development of FA.<\/jats:p>","DOI":"10.3390\/genes13101693","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T01:47:06Z","timestamp":1663811226000},"page":"1693","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a Hypomorphic FANCG Variant in Bernese Mountain Dogs"],"prefix":"10.3390","volume":"13","author":[{"given":"Katheryn","family":"Meek","sequence":"first","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Pathobiology and Diagnostic Investigation, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8512-5336","authenticated-orcid":false,"given":"Ya-Ting","family":"Yang","sequence":"additional","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9509-0528","authenticated-orcid":false,"given":"Marilia","family":"Takada","sequence":"additional","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4456-3369","authenticated-orcid":false,"given":"Maciej","family":"Parys","sequence":"additional","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlee","family":"Richter","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander I.","family":"Engleberg","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9389-4490","authenticated-orcid":false,"given":"Tuddow","family":"Thaiwong","sequence":"additional","affiliation":[{"name":"Veterinary Diagnostic Laboratory, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48190, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel L.","family":"Griffin","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1016-6998","authenticated-orcid":false,"given":"Peter Z.","family":"Schall","sequence":"additional","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6609-1265","authenticated-orcid":false,"given":"Alana J.","family":"Kramer","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9720-1279","authenticated-orcid":false,"given":"Vilma","family":"Yuzbasiyan-Gurkan","sequence":"additional","affiliation":[{"name":"Comparative Medicine and Integrative Biology Program, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"},{"name":"Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20140231","DOI":"10.1098\/rstb.2014.0231","article-title":"Comparative oncology: What dogs and other species can teach us about humans with cancer","volume":"370","author":"Schiffman","year":"2015","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1093\/ilar\/ilu017","article-title":"Domestic dogs and cancer research: A breed-based genomics approach","volume":"55","author":"Davis","year":"2014","journal-title":"ILAR J."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/vco.12186","article-title":"Germline gene polymorphisms predisposing domestic mammals to carcinogenesis","volume":"15","author":"Flisikowski","year":"2017","journal-title":"Vet. Comp. Oncol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1093\/jhered\/esp039","article-title":"Epidemiology, pathology, and genetics of histiocytic sarcoma in the Bernese mountain dog breed","volume":"100","author":"Abadie","year":"2009","journal-title":"J. Hered."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1354\/vp.39-1-74","article-title":"Localized and disseminated histiocytic sarcoma of dendritic cell origin in dogs","volume":"39","author":"Affolter","year":"2002","journal-title":"Vet. Pathol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1177\/0300985813510413","article-title":"A review of histiocytic diseases of dogs and cats","volume":"51","author":"Moore","year":"2014","journal-title":"Vet. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2672","DOI":"10.1182\/blood-2016-01-690636","article-title":"Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages","volume":"127","author":"Emile","year":"2016","journal-title":"Blood"},{"key":"ref_8","unstructured":"Writing Group of the Histiocyte Society (1987). Histiocytosis syndromes in children. Lancet, 1, 208\u2013209."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1038\/s41379-018-0200-x","article-title":"Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma","volume":"32","author":"Shanmugam","year":"2019","journal-title":"Mod. Pathol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/s41586-019-1012-y","article-title":"Efficacy of MEK inhibition in patients with histiocytic neoplasms","volume":"567","author":"Diamond","year":"2019","journal-title":"Nature"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3007","DOI":"10.1182\/blood-2014-05-577825","article-title":"Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.6004\/jnccn.2021.0053","article-title":"Histiocytic Neoplasms, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology","volume":"19","author":"Go","year":"2021","journal-title":"J. Natl. Compr. Cancer Netw."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.2021014343","article-title":"International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults","volume":"139","author":"Goyal","year":"2022","journal-title":"Blood"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1158\/2159-8290.CD-15-0913","article-title":"Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms","volume":"6","author":"Diamond","year":"2016","journal-title":"Cancer Discov."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1001\/jamaoncol.2017.5029","article-title":"Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study","volume":"4","author":"Diamond","year":"2018","journal-title":"JAMA Oncol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/vco.12357","article-title":"Gain-of-function mutation in PTPN11 in histiocytic sarcomas of Bernese Mountain Dogs","volume":"16","author":"Thaiwong","year":"2018","journal-title":"Vet. Comp. Oncol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Takada, M., Smyth, L.A., Thaiwong, T., Richter, M., Corner, S.M., Schall, P.Z., Kiupel, M., and Yuzbasiyan-Gurkan, V. (2019). Activating Mutations in PTPN11 and KRAS in Canine Histiocytic Sarcomas. Genes, 10.","DOI":"10.3390\/genes10070505"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1002\/ijc.32991","article-title":"PTPN11 mutations in canine and human disseminated histiocytic sarcoma","volume":"147","author":"Hedan","year":"2020","journal-title":"Int. J. Cancer"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1158\/1535-7163.MCT-17-1273","article-title":"Targeting MEK in a Translational Model of Histiocytic Sarcoma","volume":"17","author":"Takada","year":"2018","journal-title":"Mol. Cancer"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Takada, M., Parys, M., Gregory-Bryson, E., Vilar Saavedra, P., Kiupel, M., and Yuzbasiyan-Gurkan, V. (2018). A novel canine histiocytic sarcoma cell line: Initial characterization and utilization for drug screening studies. BMC Cancer, 18.","DOI":"10.1186\/s12885-018-4132-0"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"22","DOI":"10.30802\/AALAS-CM-18-000065","article-title":"Development of an Orthotopic Intrasplenic Xenograft Mouse Model of Canine Histiocytic Sarcoma and Its Use in Evaluating the Efficacy of Treatment with Dasatinib","volume":"69","author":"Takada","year":"2019","journal-title":"Comp. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.mrfmmm.2009.03.015","article-title":"Mouse models of Fanconi anemia","volume":"668","author":"Parmar","year":"2009","journal-title":"Mutat. Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1146\/annurev-genet-102108-134222","article-title":"How the fanconi anemia pathway guards the genome","volume":"43","author":"Moldovan","year":"2009","journal-title":"Annu. Rev. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1101\/gad.1955310","article-title":"Expanded roles of the Fanconi anemia pathway in preserving genomic stability","volume":"24","author":"Kee","year":"2010","journal-title":"Genes Dev."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Garcia-de-Teresa, B., Rodriguez, A., and Frias, S. (2020). Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences. Genes, 11.","DOI":"10.20944\/preprints202011.0563.v2"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/nrc3088","article-title":"DNA interstrand crosslink repair and cancer","volume":"11","author":"Deans","year":"2011","journal-title":"Nat. Rev. Cancer"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1182\/blood-2009-02-207811","article-title":"Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M","volume":"114","author":"Singh","year":"2009","journal-title":"Blood"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng1241","article-title":"A novel ubiquitin ligase is deficient in Fanconi anemia","volume":"35","author":"Meetei","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.molcel.2005.08.018","article-title":"A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair","volume":"19","author":"Matsushita","year":"2005","journal-title":"Mol. Cell"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddh135","article-title":"Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways","volume":"13","author":"Hussain","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1158\/1055-9965.EPI-12-0190-T","article-title":"The MTAP-CDKN2A locus confers susceptibility to a naturally occurring canine cancer","volume":"21","author":"Shearin","year":"2012","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Hedan, B., Cadieu, E., Rimbault, M., Vaysse, A., Dufaure de Citres, C., Devauchelle, P., Botherel, N., Abadie, J., Quignon, P., and Derrien, T. (2021). Identification of common predisposing loci to hematopoietic cancers in four dog breeds. PLoS Genet., 17.","DOI":"10.1371\/journal.pgen.1009395"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1101\/gr.3736605","article-title":"The canine genome","volume":"15","author":"Ostrander","year":"2005","journal-title":"Genome Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.1923","article-title":"Fast gapped-read alignment with Bowtie 2","volume":"9","author":"Langmead","year":"2012","journal-title":"Nat. Methods"},{"key":"ref_35","unstructured":"Garrison, E., and Marth, G. (2012). Haplotype-based variant detection from short-read sequencing. arXiv."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2529","DOI":"10.4049\/jimmunol.0801406","article-title":"SCID dogs: Similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice","volume":"183","author":"Meek","year":"2009","journal-title":"J. Immunol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1126\/science.1232033","article-title":"RNA-guided human genome engineering via Cas9","volume":"339","author":"Mali","year":"2013","journal-title":"Science"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"5560","DOI":"10.1021\/bi100584c","article-title":"The Fanconi anemia protein, FANCG, binds to the ERCC1-XPF endonuclease via its tetratricopeptide repeats and the central domain of ERCC1","volume":"49","author":"Wang","year":"2010","journal-title":"Biochemistry"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.mrfmmm.2010.04.003","article-title":"Several tetratricopeptide repeat (TPR) motifs of FANCG are required for assembly of the BRCA2\/D1-D2-G-X3 complex, FANCD2 monoubiquitylation and phleomycin resistance","volume":"689","author":"Wilson","year":"2010","journal-title":"Mutat. Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.dnarep.2003.09.007","article-title":"Multiple TPR motifs characterize the Fanconi anemia FANCG protein","volume":"3","author":"Blom","year":"2004","journal-title":"DNA Repair"},{"key":"ref_42","unstructured":"(2022, September 10). Fanconi Anemia Mutation Database. Available online: https:\/\/www2.rockefeller.edu\/fanconi\/."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1038\/sj.ejhg.5200552","article-title":"Spectrum of mutations in the Fanconi anaemia group G gene, FANCG\/XRCC9","volume":"8","author":"Demuth","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/age.12834","article-title":"A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves","volume":"50","author":"Jagannathan","year":"2019","journal-title":"Anim. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1038\/s41467-019-09373-w","article-title":"Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology","volume":"10","author":"Plassais","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1055\/s-0043-117046","article-title":"Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms","volume":"229","author":"Chao","year":"2017","journal-title":"Klin. Padiatr."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1073\/pnas.92.1.320","article-title":"DNA-dependent protein kinase activity is absent in xrs-6 cells: Implications for site-specific recombination and DNA double-strand break repair","volume":"92","author":"Finnie","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.4049\/jimmunol.167.4.2142","article-title":"SCID in Jack Russell terriers: A new animal model of DNA-PKcs deficiency","volume":"167","author":"Meek","year":"2001","journal-title":"J. Immunol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1126\/science.1192277","article-title":"Ku70 corrupts DNA repair in the absence of the Fanconi anemia pathway","volume":"329","author":"Pace","year":"2010","journal-title":"Science"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.molcel.2010.06.026","article-title":"Preventing nonhomologous end joining suppresses DNA repair defects of Fanconi anemia","volume":"39","author":"Adamo","year":"2010","journal-title":"Mol. Cell"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"457","DOI":"10.15283\/ijsc19074","article-title":"Inactivation of the NHEJ Activity of DNA-PKcs Prevents Fanconi Anemia Pre-Leukemic HSC Expansion","volume":"12","author":"Chatla","year":"2019","journal-title":"Int. J. Stem Cells"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.dnarep.2018.02.003","article-title":"Inhibition of non-homologous end joining in Fanconi Anemia cells results in rescue of survival after interstrand crosslinks but sensitization to replication associated double-strand breaks","volume":"64","author":"Eccles","year":"2018","journal-title":"DNA Repair"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.1080\/15384101.2020.1810394","article-title":"Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells","volume":"19","author":"Thongthip","year":"2020","journal-title":"Cell Cycle"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1128\/MCB.01298-10","article-title":"Inhibition of homologous recombination by DNA-dependent protein kinase requires kinase activity, is titratable, and is modulated by autophosphorylation","volume":"31","author":"Neal","year":"2011","journal-title":"Mol. Cell. Biol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/jvim.12284","article-title":"Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Grasbeck syndrome) in juvenile Beagles","volume":"28","author":"Fyfe","year":"2014","journal-title":"J. Vet. Intern. Med."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/j.ymgme.2013.05.006","article-title":"An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs","volume":"109","author":"Fyfe","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1182\/blood-2003-08-2852","article-title":"The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless","volume":"103","author":"Fyfe","year":"2004","journal-title":"Blood"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1001\/jama.2015.13134","article-title":"Potential Mechanisms for Cancer Resistance in Elephants and Comparative Cellular Response to DNA Damage in Humans","volume":"314","author":"Abegglen","year":"2015","journal-title":"JAMA"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.molcel.2014.07.010","article-title":"Maternal aldehyde elimination during pregnancy preserves the fetal genome","volume":"55","author":"Oberbeck","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1242\/dmm.009795","article-title":"Learning from a paradox: Recent insights into Fanconi anaemia through studying mouse models","volume":"6","author":"Bakker","year":"2013","journal-title":"Dis. Model Mech."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/nature11368","article-title":"Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function","volume":"489","author":"Garaycoechea","year":"2012","journal-title":"Nature"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature10192","article-title":"Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice","volume":"475","author":"Langevin","year":"2011","journal-title":"Nature"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1182\/blood.2019004316","article-title":"Genotoxic aldehydes in the hematopoietic system","volume":"139","author":"Wang","year":"2022","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.stem.2016.03.002","article-title":"TGF-beta Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia","volume":"18","author":"Zhang","year":"2016","journal-title":"Cell Stem Cell"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"752933","DOI":"10.3389\/fonc.2021.752933","article-title":"Mitotic Errors Promote Genomic Instability and Leukemia in a Novel Mouse Model of Fanconi Anemia","volume":"11","author":"Edwards","year":"2021","journal-title":"Front. Oncol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/10\/1693\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:36:46Z","timestamp":1760143006000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/10\/1693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,21]]},"references-count":65,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["genes13101693"],"URL":"https:\/\/doi.org\/10.3390\/genes13101693","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,21]]}}}