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Genetics Home Reference: your guide to understanding genetic conditions
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DSG4

Reviewed April 2013

What is the official name of the DSG4 gene?

The official name of this gene is “desmoglein 4.”

DSG4 is the gene's official symbol. The DSG4 gene is also known by other names, listed below.

What is the normal function of the DSG4 gene?

The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. Desmosomes help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in cells in certain regions of hair follicles, including the inner compartment of the hair strand (shaft) known as the cortex. Hair growth occurs at the hair follicle when cells divide and the hair shaft is pushed upward and extends beyond the skin.

Desmosomes provide strength to the hair and are involved in signaling between neighboring cells within the hair shaft. The DSG4 protein may play a role in communicating the signals for cells to mature (differentiate) and form the hair shaft. In addition, the DSG4 protein is found in the upper layers of the skin where it provides strength and communicates signals for the skin cells to mature.

Does the DSG4 gene share characteristics with other genes?

The DSG4 gene belongs to a family of genes called CDH (cadherins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the DSG4 gene related to health conditions?

autosomal recessive hypotrichosis - caused by mutations in the DSG4 gene

At least 10 mutations in the DSG4 gene have been found to cause autosomal recessive hypotrichosis, a condition that results in sparse hair growth (hypotrichosis) on the scalp, and less frequently, other parts of the body. A particular mutation that deletes a piece of genetic material in the DSG4 gene (written as Ex5_8) is a common cause of the condition in individuals of Pakistani ancestry. This mutation impairs the protein's ability to help cells attach to one another. Other DSG4 gene mutations result in the production of abnormal DSG4 proteins that cannot communicate signals between cells within hair follicles or skin. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to fragile hair that breaks easily. A lack of normal DSG4 protein function may weaken the skin and contribute to the skin problems sometimes seen in individuals with autosomal recessive hypotrichosis.

monilethrix - caused by mutations in the DSG4 gene

Mutations in the DSG4 gene have been found in people with monilethrix, a hair condition characterized by strands of hair with a beaded appearance. The hair is also short, brittle and breaks easily. The mutations associated with this condition can affect any part of the DSG4 protein, but these changes typically alter the extracellular domain, which is the region of the protein outside the cell that interacts with other cells. In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the DSG4 gene are related to the abnormality in the cortex or the beaded appearance of the hair.

It is unknown why some individuals with DSG4 gene mutations develop monilethrix and others develop autosomal recessive hypotrichosis (described above). These conditions may represent different forms of the same disorder.

Where is the DSG4 gene located?

Cytogenetic Location: 18q12.1

Molecular Location on chromosome 18: base pairs 31,376,776 to 31,413,916

The DSG4 gene is located on the long (q) arm of chromosome 18 at position 12.1.

The DSG4 gene is located on the long (q) arm of chromosome 18 at position 12.1.

More precisely, the DSG4 gene is located from base pair 31,376,776 to base pair 31,413,916 on chromosome 18.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DSG4?

You and your healthcare professional may find the following resources about DSG4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DSG4 gene or gene products?

  • cadherin family member 13
  • CDGF13
  • CDHF13
  • CDH family member 13
  • desmoglein-4
  • DSG4_HUMAN
  • LAH

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DSG4?

autosomal ; autosomal recessive ; cell ; domain ; epithelial ; extracellular ; gene ; hair follicle ; hypotrichosis ; mutation ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation. 2006 Mar;74(2-3):129-40. (http://www.ncbi.nlm.nih.gov/pubmed/16533311?dopt=Abstract)
  • OMIM: DESMOGLEIN 4 (http://omim.org/entry/607892)
  • Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol. 2011 Aug;165(2):425-31. doi: 10.1111/j.1365-2133.2011.10373.x. Epub 2011 Jul 19. (http://www.ncbi.nlm.nih.gov/pubmed/21495994?dopt=Abstract)
  • John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W. Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res. 2006 Aug;298(3):135-7. Epub 2006 Jun 13. (http://www.ncbi.nlm.nih.gov/pubmed/16770573?dopt=Abstract)
  • Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. (http://www.ncbi.nlm.nih.gov/pubmed/12705872?dopt=Abstract)
  • Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol. 2005 Nov;125(5):1077-9. (http://www.ncbi.nlm.nih.gov/pubmed/16297213?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/147409)
  • Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247-8. (http://www.ncbi.nlm.nih.gov/pubmed/15191570?dopt=Abstract)
  • Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1281-5. (http://www.ncbi.nlm.nih.gov/pubmed/16439973?dopt=Abstract)
  • Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. J Invest Dermatol. 2007 Jul;127(7):1779-82. Epub 2007 Mar 29. (http://www.ncbi.nlm.nih.gov/pubmed/17392831?dopt=Abstract)
  • Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. (http://www.ncbi.nlm.nih.gov/pubmed/16575393?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2013
Published: December 22, 2014