ALX4 dysfunction disrupts craniofacial and epidermal development

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dc.contributor.authorKayserili, Hülya
dc.contributor.authorUz, Elif
dc.contributor.authorNiessen, Carien
dc.contributor.authorVargel, İbrahim
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorTuncbilek, Gokhan
dc.contributor.authorAkarsu, Nurten Ayse
dc.date.accessioned2020-06-25T17:48:10Z
dc.date.available2020-06-25T17:48:10Z
dc.date.issued2009
dc.departmentKırıkkale Üniversitesi
dc.descriptionAkarsu, Nurten/0000-0001-5432-0032; Alanay, Yasemin/0000-0003-0683-9731
dc.description.abstractGenetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterized by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, callosal body agenesis and mental retardation. Using homozygosity mapping, we mapped the entity to chromosome 11p11.2-q12.3 and subsequently identified a homozygous c.793C -> T nonsense mutation in the human ortholog of the mouse aristaless-like homeobox 4 (ALX4) gene. This mutation is predicted to result in a premature stop codon (p.R265X) of ALX4 truncating 146 amino acids of the protein including a part of the highly conserved homeodomain and the C-terminal paired tail domain. Although the RNA is stable and not degraded by nonsense-mediated RNA decay, the mutant protein is likely to be non-functional. In a skin biopsy of an affected individual, we observed a hypomorphic interfollicular epidermis with reduced suprabasal layers associated with impaired interfollicular epidermal differentiation. Hair follicle-like structures were present but showed altered differentiation. Our data indicate that ALX4 plays a critical role both in craniofacial development as in skin and hair follicle development in human.en_US
dc.description.sponsorshipScientific and Technology Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [108S420, 108S418]; German Federal Ministry of Education and Research GrantsFederal Ministry of Education & Research (BMBF) [01GM0801, SFB829]; European Research Area Network 'E-RARE' [R07197KS]en_US
dc.description.sponsorshipThis work was supported by the Scientific and Technology Research Council of Turkey (TUBITAK) [grant numbers 108S420 (to N.A.A.) and 108S418 (to H. K.)]; and German Federal Ministry of Education and Research Grants [grant numbers [01GM0801 (to B. W.) and SFB829 (to C.M.N. and I. H.). Responsibility for the contents rests with authors. Overall consortium (CRANIRARE) was supported by the European Research Area Network 'E-RARE' [Project number R07197KS].en_US
dc.identifier.citationKayserili, H., Uz, E., Niessen, C., Vargel, I., Alanay, Y., Tuncbilek, G., Yigit, G., Uyguner, O., Candan, S., Okur, H., Kaygin, S., Balci, S., Mavili, E., Alikasifoglu, M., Haase, I., Wollnik, B., & Akarsu, N. A. (2009). ALX4 dysfunction disrupts craniofacial and epidermal development. Human molecular genetics, 18(22), 4357–4366. https://doi.org/10.1093/hmg/ddp391en_US
dc.identifier.doi10.1093/hmg/ddp391
dc.identifier.endpage4366en_US
dc.identifier.issn0964-6906
dc.identifier.issn1460-2083
dc.identifier.issue22en_US
dc.identifier.pmid19692347
dc.identifier.scopus2-s2.0-70350671697
dc.identifier.scopusqualityQ2
dc.identifier.startpage4357en_US
dc.identifier.urihttps://doi.org/10.1093/hmg/ddp391
dc.identifier.urihttps://hdl.handle.net/20.500.12587/4340
dc.identifier.volume18en_US
dc.identifier.wosWOS:000271107300012
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherOxford Univ Pressen_US
dc.relation.ispartofHuman Molecular Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleALX4 dysfunction disrupts craniofacial and epidermal developmenten_US
dc.typeArticle

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