The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

Jahoda, Colin A.B.; Kljuic, Ana; O'Shaughnessy, R; Crossley, Neil; Whitehouse, Claire J.; Robinson, Mark; Reynolds, Amanda J.; Démarchez, Michel; Porter, Rebecca; Shapiro, Lawrence; Christiano, Angela M.

doi:10.1016/j.ygeno.2003.11.015

Cited by 49 publications

(53 citation statements)

References 32 publications

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“…A variety of mutations in DSG4 include frameshift, splice-site, missense and nonsense, responsible for the autosomal recessive hair conditions Monilethrix and hypotrichosis (Schaffer et al, 2006;Zlotogorski et al, 2006;Shimomura et al, 2006). In mice, DSG4 defi ciency presents with a lanceolate hair phenotype, characterised by sparse, fragile, broken hair shafts, follicular dystrophy and ichthyosiform dermatitis (Jahoda et al, 2004;Bazzi et al, 2005).…”

Section: Desmosomal Cadherinsmentioning

confidence: 99%

Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

Nitoiu

Etheridge

Kelsell

2014

Cell Communication & Adhesion

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Section: Desmosomal Cadherinsmentioning

confidence: 99%

Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

Nitoiu

Etheridge

Kelsell

2014

Cell Communication & Adhesion

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“…The most recently discovered desmosomal cadherin, desmoglein 4, is essential for hair shaft integrity and its loss of function leads to localized autosomal recessive hypotrichosis in humans (LAH, OMIM# 607903) and the lanceolate hair phenotype in mice and rats [5,12]. DSG4 is highly expressed in the hair shaft cortex where the abnormal phenotype arises in LAH patients and lah rodents [6].…”

Section: Lessons From Human Skin and Heart Diseases And Mutant Animalmentioning

confidence: 99%

“…Lanceolate hair mice and rats [5], [12], [13][14][15][16] Curr Opin Cell Biol. Author manuscript; available in PMC 2015 January 16.…”

Section: Lah Armentioning

confidence: 99%

Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry

Bazzi

Christiano

2007

Current Opinion in Cell Biology

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Desmosomal cadherins constitute the adhesive core of desmosomes. The different types of these cadherins are differentially expressed in a tissue specific as well as differentiation dependent manner. The skin and the heart are two examples of tissues whose vital functions require the ability to endure mechanical stress, and therefore, the integrity of desmosomal adhesion. When this adhesion is compromised via mutations in genes encoding desmosomal cadherins or associated plaque proteins, both tissues can suffer the consequences. Open questions revolve around whether the resulting phenotypes are solely due to physical disruption of cell adhesion, or whether these events are coupled with signaling mechanisms that influence many additional cellular processes. In this review, we focus on new developments in desmosomal adhesion with an emphasis on the skin, hair and heart.

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“…Later, a deletion encompassing exons 5-8 of human DSG4 in families with localized autosomal recessive hypotrichosis (LAH) was found, and a single nucleotide insertion in exon 7, along with a missense mutation in exon 6 in mice with lanceolate hair (lah) was identified (Kljuic et al, 2003). Subsequently, a number of mutations within DSG4 that are associated with LAH (Messenger et al, 2005;Wajid et al, 2007) and monilethrix hairs in humans (Schaffer et al, 2006;Shimomura et al, 2006;Zlotogorski et al, 2006), and lah in rats (Jahoda et al, 2004;Meyer et al, 2004;Bazzi et al, 2006) were reported, which further indicated the importance of DSG4. In addition, some reports showed that members of the DSG family were associated with skin disease (Amagai, 2010;Amagai and Stanley, 2012).…”

Section: Introductionmentioning

confidence: 99%

Desmoglein 4 diversity and correlation analysis with coat color in goat

Zhao

Cao

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Desmoglein 4 (DSG4) has an important role in the development of wool traits in domestic animals. The full-length DSG4 gene, which contains 3918 bp, a complete open-reading-frame, and encodes a 1040-amino acid protein, was amplified from Liaoning cashmere goat. The sequence was compared with that of DSG4 from other animals and the results show that the DSG4 coding region is consistent with interspecies conservation. Thirteen single-nucleotide polymorphisms (SNPs) were identified in a highly variable region of DSG4, and one SNP (M-1, G>T) was significantly correlated with white and black coat color in goat. Haplotype distribution of the highly variable region of DSG4 was assessed in 179 individuals from seven goat breeds to investigate its association with coat color and its differentiation among populations. However, the lack of a signature result indicates DGS4 haplotypes related with the color of goat coat.

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The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

Cited by 49 publications

References 32 publications

Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry

Desmoglein 4 diversity and correlation analysis with coat color in goat

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