The "Hairless" Gene in Mouse and Man

Sundberg, John P.; Price, Vera H.; King, Lloyd E.

doi:10.1001/archderm.135.6.718

Cited by 29 publications

(20 citation statements)

References 16 publications

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“…Alopecia universalis is actually a well-characterised, complex genetic-based autoimmune skin disease in both humans (Martinez-Mir et al, 2007) and mice (Sundberg et al, 2004). Although this mismatch was initially of great concern (Sundberg et al, 1999), it subsequently led to a much better understanding of papular atrichia. Many mutations have now been identified in the human hairless gene, as well as in rodents and non-human primates (Panteleyev et al, 1998;Ahmad et al, 2002).…”

Section: Box 2 Pre-composition and Post-compositionmentioning

confidence: 99%

Phenotype ontologies for mouse and man: bridging the semantic gap

Schofield

Gkoutos

Gruenberger³

et al. 2010

Disease Models &Amp; Mechanisms

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A major challenge of the post-genomic era is coding phenotype data from humans and model organisms such as the mouse, to permit the meaningful translation of phenotype descriptions between species. This ability is essential if we are to facilitate phenotype-driven gene function discovery and empower comparative pathobiology. Here, we review the current state of the art for phenotype and disease description in mice and humans, and discuss ways in which the semantic gap between coding systems might be bridged to facilitate the discovery and exploitation of new mouse models of human diseases.publishersversionPeer reviewe

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Section: Box 2 Pre-composition and Post-compositionmentioning

confidence: 99%

Phenotype ontologies for mouse and man: bridging the semantic gap

Schofield

Gkoutos

Gruenberger³

et al. 2010

Disease Models &Amp; Mechanisms

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“…Hairless is an autosomal recessive allelic mutation of murine chromosome 14 resulting in a deficiency in production of a transcriptional corepressor that likely regulates the expression of one or more proteins involved in normal hair cycling Panteleyev et al 1998aPanteleyev et al , 2000Potter et al 2001;Benavides et al 2009). Loss of the Hr transcript ultimately results in the dissociation of the superficial, non-cycling portion of the hair follicle, which contains a population of proliferative hair follicle stem cells (the ''bulge'' region of Botchkarev et al 1997), from the lower follicular dermal papilla, preventing the stem cells from migrating to the dermal papilla, and permanently interrupting the growth phase of the hair cycle (Stoye et al 1988;Sundberg et al 1989Sundberg et al , 1999Panteleyev et al 1998aPanteleyev et al , 1998bPanteleyev et al , 2000Paradisi et al 2002). A comparable Hr locus is found in the human genome on chromosome 8p (Ahmad et al , 1998b(Ahmad et al , 1999, mutation of which is related to several human skin conditions, including alopecia universalis and papular atricia, to which the murine Hr phenotype bears resemblance (Sundberg et al 1989Panteleyev et al 1998aPanteleyev et al , 1998bPanteleyev et al , 1999Panteleyev et al , 2000Paradisi et al 2002).…”

Section: Introductionmentioning

confidence: 99%

“…Over the next 2-3 weeks, however, they permanently lose virtually all of their fur hair follicles, leaving only the vibrissal follicles on their muzzle (i.e., mystacial pad) and a few thin, irregular hairs in their skin. Hr mice have been useful as a model for studying hair cycling (Mann and Straile 1961;Mann 1971;Sundberg et al 1989Sundberg et al , 1999Panteleyev et al 1998aPanteleyev et al , 1998bMassironi et al 2005), the effects of ultraviolet light, chemicals, and abrasion on the skin (FitzGerald et al 1975; see Armstrong et al 1997 for a review), and transdermal drug delivery (see Hammond et al 2000;Kanikkannan et al 2000;Ramachandran and Fleisher 2000;Benavides et al 2009 for reviews). However, few neuroanatomical reports could be found using Hr as a model.…”

Section: Introductionmentioning

confidence: 99%

Immunohistochemical comparison of whisker pad cutaneous innervation in Swiss Webster andhairlessmice

Mosconi

Gruber

2010

Somatosensory & Motor Research

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To establish the mouse mutant, hairless (Hr), as a useful model for future analyses of target-ending interactions, we assessed the cutaneous innervation in the whisker pad after loss of primary hair targets. Postnatal (P) development of fur in Hr begins similarly to that of "normal" Swiss Webster (SW) mice. Around P10, hairs are shed and the follicles rendered permanently incompetent. Hair loss progresses rostrocaudally until the entire skin is denuded. Substantial alterations in the distribution and density of sensory and autonomic endings in the mystacial pad vibrissal and intervibrissal fur innervation were discovered. Pilo-neural complexes innervating fur hairs were dismantled in Hr. Epidermal innervation in SW was rich; only a few endings expressed growth-associated protein-43 kdal (GAP), suggesting limited changes in axonal elongation. Innervation in Hr formed a dense layer passing upward through the thickened epidermis, with substantial increases among all types of endings. Vibrissal follicle-sinus complexes were also hyperinnervated. Endings in Hr vibrissae and fur were strongly GAP-positive, suggesting reorganization of innervation. Dermal and vascular autonomic innervation in both strains co-localized tyrosine hydroxylase and neuropeptide Y, but only in Hr did neuropeptide Y co-localize calcitonin gene-related peptide (CGRP) and express GAP immunolabeling. Stereological quantitation of trigeminal ganglia revealed no differences in neuron number between Hr and SW, although there were small increases in cell volume in Hr trigeminal ganglion cells. These results suggested that a form of collateral sprouting was active in Hr mystacial pads, not in response to local injury, but as a result of loss of primary target tissues.

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“…[19,20,21]. Interessanterweise werden betroffene Individuen mit einem intakten Haarkleid geboren, jedoch kommt es innerhalb der ersten 12 Monate nach der Geburt zu einem in der Regel vollständigen Haarverlust,ohne Nachwachsen der Haare.Feingeweblich ist die Erkrankung durch die völ-lige Abwesenheit intakter Haarfollikel und tief in der Dermis gelegene,von Hornmassen ausgekleidete zystische Strukturen charakterisiert [20,21].…”

Section: Introductionunclassified

Genetisch bedingte Haarerkrankungen

2003

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Over the last years, the rapid advance of discoveries in the field of molecular genetics has provided physicians and scientists with new insights into etiology and pathogenesis of several monogenetic and polygenetic human diseases. Along with remarkable progress regarding genodermatoses in general, different molecular mechanisms involved in hair growth have been elucidated and mutations causing several genetic hair disorders have been identified. We provide an overview of the molecular genetic basis and the clinical hallmarks of some diseases associated with hypertrichosis and hypotrichosis.

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The "Hairless" Gene in Mouse and Man

Cited by 29 publications

References 16 publications

Phenotype ontologies for mouse and man: bridging the semantic gap

Phenotype ontologies for mouse and man: bridging the semantic gap

Immunohistochemical comparison of whisker pad cutaneous innervation in Swiss Webster andhairlessmice

Genetisch bedingte Haarerkrankungen

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