Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat

Bazzi, Hisham; Kljuic, Ana; Christiano, Angela M.; Panteleyev, Andrey A.

doi:10.1111/j.1432-0436.2004.07208010.x

Cited by 27 publications

(34 citation statements)

References 22 publications

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“…The rodent models used in this study have been described previously: Dsg4 −/− mice are known as lah J−/− (Sundberg et al, 2000; Kljuic et al, 2003) and rats are known as lah IC− /− (or Iffa Credo ) (Bazzi et al, 2004), presenilin 1 and 2 double conditional knockout (PSDCKO, genotype: Msx2-Cre +/−; Psn1 flox/flox ; Psn2 −/− ) (Pan et al, 2004). …”

Section: Methodsmentioning

confidence: 99%

Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation

et al. 2009

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The hair fiber is made of specialized keratinocytes, known as trichocytes, that primarily express hair keratins which are cemented by a multitude of keratin-associated proteins (KAPs). The hair keratins form the intermediate filament cytoskeleton of the trichocytes, which are linked to abundant cell-cell adhesion junctions, called desmosomes. Desmoglein 4 (DSG4) is the major desmosomal cadherin expressed in the hair shaft cortex where the hair keratins are highly expressed. In humans, mutations affecting either the hair keratins or DSG4 lead to beaded hair phenotypes with features of monilethrix. In this work, we postulated that the regulatory pathways governing the expression of hair shaft components, such as hair keratins and DSG4, are similar. Therefore, we studied the transcriptional regulation of DSG4 by transcription factors/pathways that are known regulators of hair keratin or KAP expression. We show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.

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Section: Methodsmentioning

confidence: 99%

Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation

et al. 2009

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“…The nature of the mutation of the OFA strain has recently been shown to be a large intragenic deletion of the desmoglein-4 gene (Dsg-4) encompassing nine exons (Bazzi et al 2004, Kim et al 2004, Meyer et al 2004, which codifies for a protein belonging to the desmoglein family. The products of these genes, expressed in neural and neuroendocrine tissues, are cell adhesion molecules related to cadherins.…”

Section: Introductionmentioning

confidence: 99%

Hormonal profile and reproductive performance in lactation deficient (OFA hr/hr) and normal (Sprague–Dawley) female rats

Valdéz¹,

Penissi²,

Deis³

et al. 2007

Reproduction

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Lactation deficiency may have important consequences on infant health, particularly in populations of low socioeconomic status. The OFA hr/hr (OFA) strain of rats, derived from Sprague-Dawley (SD) rats, has deficient lactation and is a good model of lactation failure. We examined the reproductive performance and hormonal profiles in OFA and SD strains to determine the cause(s) of the lactation failure of the OFA strain. We measured hormonal (PRL, GH, gonadotropins, oxytocin, and progesterone) levels by RIA in cycling, pregnant, and lactating rats and in response to suckling. Dopaminergic metabolism was assessed by determination of mediobasal hypothalamic dopamine and dihydroxyphenylacetic acid (DOPAC) concentrations by HPLC and tyrosine hydroxylase expression by immunocytochemistry and western blot. OFA rats have normal fertility but 50% of the litters die of malnutrition on early lactation; only 6% of the mothers show normal lactation. The OFA rats showed lower circulating PRL during lactation, increased hypothalamic dopamine and DOPAC, and impaired milk ejection with decreased PRL and oxytocin response to suckling. Before parturition, PRL release and lactogenesis were normal, but dopaminergic metabolism was altered, suggesting activation of the dopaminergic system in OFA but not in SD rats. The number of arcuate and periventricular neurons expressing tyrosine hydroxylase was higher in SD rats, but hypothalamic expression of TH was higher in OFA rats at the end of pregnancy and early lactation. These results suggest that the OFA rats have impaired PRL release linked with an augmented dopaminergic tone which could be partially responsible for the lactational failure.

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“…There are also several models of transgenic mice or rat that exhibit symptoms closely related but not identical to those we described in the coatis. Examples are the mutant mice Sha (shaven) whose hair shafts are twisted and fail to penetrate the epidermis, the Charles River ‘hairless’ rat, which is one of the autosomal hypotrichotic animal models most studied in dermatology research, and the cryptothrix mouse in which the hair shaft does not erupt on the skin surface because of an incomplete hair shaft keratinization 12–15 . In most of these syndromes, the underlying mechanism involves a defect in an important pathway in hair shaft keratinization.…”

Section: Discussionmentioning

confidence: 99%

Congenital follicular dysplasia in five related coatimundis (Nasua nasua)

Nicolier

Welle

Walzer

et al. 2005

Veterinary Dermatology

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We report a congenital follicular dysplasia in five coatis from four different litters of the same parents born between 1996 and 2001. These coatis were born apparently alopecic with the entire body covered by very short dark hairs, with secondary lichenification of the skin, crusting and scaling. The main histopathological feature consisted of premature cornification of the cortical cells of the hair shaft. Cells were already fully cornified below the Adamson's fringe, leading to a disorganized, fragmented and constricted hair shaft. Based on the history of the animals and the nature of the lesions, a genetic defect in hair shaft keratinization was suspected.

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Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat

Cited by 27 publications

References 22 publications

Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation

Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation

Hormonal profile and reproductive performance in lactation deficient (OFA hr/hr) and normal (Sprague–Dawley) female rats

Congenital follicular dysplasia in five related coatimundis (Nasua nasua)

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