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• W2091202208 abstract "To the Editor: Localized hypotrichosis (MIM 607903) is a rare form of alopecia and is inherited in an autosomal recessive pattern (Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar;Rafique et al., 2003Rafique M.A. Ansar M. Jamal S.M. et al.A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.Eur J Hum Genet. 2003; 11: 623-628Crossref PubMed Scopus (31) Google Scholar). In individuals affected with this form of hair loss, hypotrichosis is restricted to the scalp, chest, arms, and legs. Facial hair, including the eyebrows and beard, is less dense, and axillary, pubic hair, and eyelashes are sparse. At birth, hairs are present on the scalp, but regrow sparsely after ritual shaving (Figure 1). Affected individuals show no growth or developmental delay, normal hearing, teeth and nails, and no abnormalities in sweating. Histological analysis of scalp skin of the patient's (Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar) revealed abnormal hair follicles and shafts, which were thin and atrophic and often appeared coiled up within the skin due to their inability to penetrate the epidermis. We, and others (Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar;Rafique et al., 2003Rafique M.A. Ansar M. Jamal S.M. et al.A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.Eur J Hum Genet. 2003; 11: 623-628Crossref PubMed Scopus (31) Google Scholar) recently reported a linkage in this form of hypotrichosis to chromosome 18q12. A small region of 700 kb on chromosome 18q12.1 contains cluster of Desmoglein (DSG1, DSG2, and DSG3) and desmocollin (DSC1, DSC2, and DSC3) genes. Both desmoglein and desmocollins are the glycoproteins of desmosomes, which are the most common type of intercellular junctions mediating cell-to-cell adhesion in vertebrate epithelial cells (Townes and Behringer, 1990Townes T.M. Behringer R.R. Human globin locus activation region (LAR): Role in temporal control.Trends Genet. 1990; 6: 219-223Abstract Full Text PDF PubMed Scopus (137) Google Scholar). Recently,Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar andWhittock and Bower, 2003Whittock N.V. Bower C. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.J Invest Dermatol. 2003; 120: 523-530Crossref PubMed Scopus (72) Google Scholar reported the cloning of DSG4, a new member of desmoglein. DSG4 gene is composed of 16 exons spanning approximately 37 kb of genomic DNA and is situated between DSG1 and DSG3. The 3.6-kb human DSG4 cDNA contains an open reading frame of 3120 bp that encodes a precursor protein of 1040 amino acids. The predicted mature protein comprises 991 amino acids with a molecular weight of 107,822 Da. The human DSG4 protein shares 41% identity with human DSG1 protein, 37% with human DSG2 protein, and 50% with human DSG3 protein. The DSG4 syntenic region on mouse chromosome 18 harbors desmosomal cadherin cluster (Montagutelli et al., 1996Montagutelli X. Hogen M.E. Aubin G. Lalouette A. Guenet J.L. King Jr, L.E. Sundberg J.P. Lanceolate hair (lah): A recessive mouse mutation with alopecia and abnormal hair.J Invest Dermatol. 1996; 107: 20-25Crossref PubMed Scopus (34) Google Scholar). Recently, three additional desmoglein genes (Dsg4, Dsg1b, Dsg1c) have been identified in the cadherin cluster (Kljuic and Christiano, 2003Kljuic A. Christiano A.M. A novel mouse desmosomal cadherin family member, desmoglein 1 gamma.Exp Dermatol. 2003; 12: 20-29Crossref PubMed Scopus (29) Google Scholar;Pulkkinen et al., 2003Pulkkinen L. Choi Y.W. Kljuic A. Uitto J. Mahoney M.G. Novel member of the mouse desmoglein gene family: Dsg1-beta.Exp Dermatol. 2003; 12: 11-19Crossref PubMed Scopus (26) Google Scholar;Whittock, 2003Whittock N.V. Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: Characterization of mouse DSG4, DSG5, and DSG6.J Invest Dermatol. 2003; 120: 970-980Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar). Using RT-PCR on multiple tissue cDNA samples,Whittock and Bower, 2003Whittock N.V. Bower C. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.J Invest Dermatol. 2003; 120: 523-530Crossref PubMed Scopus (72) Google Scholar andKljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar demonstrated that DSG4 has very specific tissue expression in salivary gland, testis, prostate, and skin.Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar provided evidence that DSG4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation. In affected individuals from two consanguineous Pakistani pedigrees with localized autosomal recessive hypotrichosis (LAH),Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar identified an identical homozygous deletion mutation (EX5_8del) within the DSG4 gene. The deletion began 35 bp upstream of exon 5 and ended 289 bp downstream of exon 8. This mutation generated an in-frame deletion creating a predicted protein missing amino acids 125–335. Since the candidate linkage interval of 5.5 Mb identified in three families (LAP1, LAP2, and LAP3) reported by us (Rafique et al., 2003Rafique M.A. Ansar M. Jamal S.M. et al.A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.Eur J Hum Genet. 2003; 11: 623-628Crossref PubMed Scopus (31) Google Scholar) contains all the desmoglein and desmocollin genes, we screened the DSG4 gene for mutations in all three families. Exons and splice junctions were PCR amplified from genomic DNA by primer sets designed from intronic regions of DSG4 and sequenced directly in an ABI Prism 310 Big Dye Terminator Cycle Sequencing reaction Sequencing Kit (PE Applied Biosystems, Foster City, California) following purification in a Centri-Sep Spin Columns (Applied Biosystem). Exons 5–8 failed to get amplified from the genomic DNA of affected individuals in all the three families. Therefore, a new set of primer was designed from introns 4 and 8 to search for the mutation reported earlier byKljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar. The primer sequences used were 5′-AAACATGGCAGACTGAACCC-3′ 5′-CAGTATGCAAGGTTCTCAGC-3′ Surprisingly, the same recurrent mutation (EX5_8del) (Figure 1) was identified in all the three families. The identification of a recurrent mutation in DSG4 may suggest that these are hotspot mutations within the DSG4 gene, or may be due to a common ancestor. The fact that all five families including two inKljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar and three inRafique et al., 2003Rafique M.A. Ansar M. Jamal S.M. et al.A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.Eur J Hum Genet. 2003; 11: 623-628Crossref PubMed Scopus (31) Google Scholar belong to Pakistan, although with different ethnic origin, have the same mutation is highly suggestive of an ancestral allele. Upon examining the haplotypes for LAP1, LAP2, and LAP3 (Rafique et al., 2003Rafique M.A. Ansar M. Jamal S.M. et al.A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.Eur J Hum Genet. 2003; 11: 623-628Crossref PubMed Scopus (31) Google Scholar) it was observed that the disease mutation in the three families appeared on very similar haplotypes. All three families share the same disease haplotype for markers D18S1104 (142), D18S1107 (120), D18S478 (240), D18S847 (220), D18S1133 (192), and D18S67 (121). As members of the cadherin superfamily, the desmoglein and desmocollin genes possess similar structural functional domains, including sites for adhesion recognition, calcium binding, membrane integration, cytoskeletal interactions, and post-translational modifications, such as phosphorylations, glycosylation, and proteolysis (Grunwald, 1993Grunwald G.B. The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules.Curr Opin Cell Biol. 1993; 5: 797-805Crossref PubMed Scopus (250) Google Scholar). Therefore, in addition to their functions as static adhesive proteins, they also function as dynamic mediators of morphogenesis during embryonic development and are modulated in response to signals such as calcium concentration, in cell differentiation, motility and are potentially involved in disease phenotypes (Silos et al., 1996Silos S.A. Tamai K. Li K. Kivirikko S. Kouba D. Christiano A.M. Uitto J. Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element.J Biol Chem. 1996; 271: 17504-17511Crossref PubMed Scopus (34) Google Scholar). Certain members of the desmosomal cadherin family have been implicated previously in a number of acquired and inherited skin diseases (Calvanico et al., 1991Calvanico N.J. Martins C.R. Diaz L.A. Characterization of pemphigus foliaceus antigen from human epidermis.J Invest Dermatol. 1991; 96: 815-821Abstract Full Text PDF PubMed Google Scholar;Karpati et al., 1994Karpati S. Amagai M. Prussick R. Stanley J.R. Pemphigus vulgaris antigen is a desmosomal desmoglein.Dermatology. 1994; 189: 24-26Crossref PubMed Scopus (12) Google Scholar;Hashimoto et al., 1997Hashimoto T. Kiyokawa C. Mori O. et al.Human desmocollin 1 (Dsc1) is an autoantigen for the subcorneal pustular dermatosis type of IgA pemphigus.J Invest Dermatol. 1997; 109: 127-131Crossref PubMed Scopus (180) Google Scholar). Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar determined that mutations in the Dsg4 gene cause the lanceolate hair (lah) phenotype in mice, which maps to chromosome 18. lah/lah pups develop only a few short, fragile hairs on the head and neck that disappear within a few months. The vibrissae are short and abnormal, and the pups have thickened skin. Mutant lah/lah mice do not exhibit any growth retardation relative to their unaffected littermates. Desmoglein 4 in mouse (Dsg4) and human DSG4 share 79% and 86% amino acid identity and homology, respectively (Whittock and Bower, 2003Whittock N.V. Bower C. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.J Invest Dermatol. 2003; 120: 523-530Crossref PubMed Scopus (72) Google Scholar). The human and mouse mRNA were highly expressed in skin. In situ hybridization of mouse skin section and vibrissae follicles revealed that Dsg4 is expressed in anagen stage hair follicles (Kljuic et al., 2003Kljuic A. Bazzi H. Sundberg J.P. et al.Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003; 113: 249-260Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar;Whittock and Bower, 2003Whittock N.V. Bower C. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.J Invest Dermatol. 2003; 120: 523-530Crossref PubMed Scopus (72) Google Scholar). DSG4 was also detected within anagen follicles where its expression commenced in the matrix and extended throughout precortical cells and IRS. The presence of desmoglein 4 in the inner layer of the hair follicle where DSG1 and DSG3 also show some expression (Wu et al., 2003Wu H. Stanley J.R. Cotsarelis G. Desmoglein isotype expression in the hair follicle and its cysts correlates with type of keratinization and degree of differentiation.J Invest Dermatol. 2003; 120: 1152-1157Google Scholar), suggest a critical role for desmoglein 4 in differentiation of ascending HF layers. We wish to thank the family members for their cooperation. Higher Education Commission (HEC) Pakistan and Pakistan Science Foundation (PSF) supported the work presented here." @default.
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• W2091202208 title "A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis" @default.
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