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However, some transcription factors have recently been reported to remain on mitotic chromosomes and facilitate the rapid re\u2010activation of the target genes in early G1\u2010phase. Paired\u2010like homeobox 2B (PHOX2B) is a transcription factor exhibiting chromosomal localization during M\u2010phase. PHOX2B mutations are associated with congenital central hypoventilation syndrome, Hirschsprung disease, and neuroblastoma. In this study, we investigated PHOX2B chromosomal localization during M\u2010phase through immunostaining and fluorescence recovery after photobleaching analysis to determine whether the chromosomal localization of disease\u2010associated PHOX2B mutants is altered during M\u2010phase. Missense mutations in the homeodomain and the frameshift mutation in the C\u2010terminal domain disrupted the chromosomal localization of PHOX2B in M\u2010phase, leading to its dispersion in the cell. Furthermore, a PHOX2B mutant with polyalanine expansion showed a line\u2010shaped localization to the restricted region of mitotic chromosomes. Our findings suggest an association between the disease\u2010associated mutations and defective chromosomal localization of transcription factors during M\u2010phase. Further investigations of PHOX2B chromosomal localization during M\u2010phase could reveal pathogenic mechanisms of such diseases.<\/jats:p>","DOI":"10.1111\/dgd.70001","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T23:04:06Z","timestamp":1739315046000},"page":"136-148","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Chromosomal localization of <scp>PHOX2B<\/scp> during M\u2010phase is disrupted in disease\u2010associated mutants"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3758-3452","authenticated-orcid":false,"given":"Yuki","family":"Sato","sequence":"first","affiliation":[{"name":"Department of Anatomy, Faculty of Medicine Kansai Medical University  Osaka 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