Molecular and functional aspects of the hairless (<i>hr</i>) gene in laboratory rodents and humans

Panteleyev, Andrey A.; Paus, Ralf; Ahmad, Wasim; Sundberg, John P.; Christiano, Angela M.

doi:10.1111/j.1600-0625.1998.tb00295.x-i1

Cited by 119 publications

(80 citation statements)

References 113 publications

(205 reference statements)

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“…Mutations of the human hairless gene revealed congenital hair loss disorders. Some mutant alleles in both mice and humans show skin wrinkling and papular rash (Panteleyev et al, 1998). Hairless null KO mice show both hair and skin phenotypes (Zarach et al, 2004).…”

Section: Hairlessmentioning

confidence: 99%

Roles of jumonji and jumonji family genes in chromatin regulation and development

Takeuchi

Watanabe

Takano-Shimizu

et al. 2006

Developmental Dynamics

176

148

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The jumonji (jmj) gene was identified by a mouse gene trap approach and has essential roles in the development of multiple tissues. The Jmj protein has a DNA binding domain, ARID, and two conserved jmj domains (jmjN and jmjC). In many diverse species including bacteria, fungi, plants, and animals, there are many jumonji family proteins that have only the jmjC domain or both jmj domains. Recently, Jmj protein was found to be a transcriptional repressor. Several proteins in the jumonji family are involved in transcriptional repression and/or chromatin regulation. Most recently, one of the human members has been shown to be a histone demethylase, and the jmjC domain is essential for the demethylase activity. Meanwhile, more and more evidence indicating that the jumonji family proteins play important roles during development is accumulating. Many proteins in the jumonji family may regulate chromatin and gene expression, and control development through various signaling pathways. Here, we highlight the roles of jmj and jumonji family proteins in chromatin regulation and development. Developmental Dynamics 235: 2449 -2459, 2006.

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Section: Hairlessmentioning

confidence: 99%

Roles of jumonji and jumonji family genes in chromatin regulation and development

Takeuchi

Watanabe

Takano-Shimizu

et al. 2006

Developmental Dynamics

176

148

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“…Recent studies have suggested that HR protein acts as a nuclear receptor co-repressor in concert with the vitamin D receptor gene and represses the expression of WISE protein, which inhibits Wnt signaling 16,17 . The follicular cysts seen in APL patients may arise from follicular remnants that survive after the follicle breaks apart during catagen 13,18 . As the cyst epithelium expresses keratin K17, which normally occurs in the outer root sheath of hair follicles, cysts in APL patients appear to arise from the bulge of the hair follicle 13,19 .…”

Section: Discussionmentioning

confidence: 99%

Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

et al. 2011

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Background: Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU). Objective: We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls. Methods: The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed. Results: DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients' mother and maternal grandfather, who were heterozygous HR gene carriers. Conclusion: Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.

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“…the nu/nu and +/+ embryos thus selected were first subjected to He staining. the He stained sagittal sections of the embryos revealed that the nu/nu embryos contained no thymus, which is a feature of nu/nu mice [9], whereas the +/+ embryos presented a normal tissues pattern (Fig. 6).…”

Section: Metal Staining Condition In Micro-ct Analysismentioning

confidence: 95%

Examination of the Mouse Embryo by Micro-CT

Hiraiwa

Ishimoto²,

Yasue³

2013

Exp. Anim.

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Micro X-ray computed tomography (micro-CT) is widely used in preclinical studies of small animals. However, due to the low soft tissue contrast, segmentation of soft tissues in the micro-CT image is a challenging problem. To gain a better understanding of the macroscopic anatomy of the mouse embryo, 3 fixation methods and 3 metal stainings were examined for micro-CT using C57BL/6J mouse embryos in the present study. The examination demonstrated that 1% acetic acid/95% ethanol fixative together with zinc staining provided a high contrast micro-CT image, enabling the segmentation of soft tissues. Then, using this condition, the macroscopic embryo structure of the nude mouse was examined, revealing lack of a thymus. It appears that micro-CT with the fixation and staining condition devised in the present study could be a powerful tool in detecting the effects of various mutations at embryonic stages.

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Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans

Abstract: and susceptibility to dioxin toxicity. On the basis of our current understande-mail: amc65/columbia.edu ing of hairlessness, we speculate on the putative functions of the hr gene product in skin physiology, and particularly, in hair follicle biology.

Cited by 119 publications

References 113 publications

Roles of jumonji and jumonji family genes in chromatin regulation and development

Roles of jumonji and jumonji family genes in chromatin regulation and development

Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

Examination of the Mouse Embryo by Micro-CT

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