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Genetics Home Reference: your guide to understanding genetic conditions
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SBDS

Reviewed December 2007

What is the official name of the SBDS gene?

The official name of this gene is “Shwachman-Bodian-Diamond syndrome.”

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

What is the normal function of the SBDS gene?

The SBDS gene provides instructions for making a protein whose function is unknown. Because mutations in this gene cause health problems affecting many body systems, researchers believe that the SBDS protein has an essential function in cells throughout the body.

Studies suggest that the SBDS protein may play a role in processing RNA, a molecule that is a chemical cousin of DNA. This protein may also be involved in building ribosomes, which are cellular structures that use the instructions encoded by RNA to create proteins. More research is needed to clarify the protein's role in these processes.

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

Shwachman-Diamond syndrome - caused by mutations in the SBDS gene

At least 20 mutations in the SBDS gene have been identified in people with Shwachman-Diamond syndrome. Most of these mutations result from an exchange of genetic material between the SBDS gene and a very similar, but nonfunctional, piece of DNA called a pseudogene, which is located very close to the SBDS gene on chromosome 7. This type of DNA exchange is called a gene conversion. The genetic material from the pseudogene contains errors that, when introduced into the SBDS gene, disrupt the way the gene's instructions are used to make a protein.

The two most common mutations in people with Shwachman-Diamond syndrome result from exchanges between the SBDS gene and the nearby pseudogene. One of these mutations, written as 258+2T>C, changes a single DNA building block (nucleotide) in a region of the gene known as intron 2. This mutation, which is called a splice-site mutation, prevents the production of any functional SBDS protein. The other common mutation, written as 183-184TA>CT, changes two nucleotides in the SBDS gene. This genetic change introduces a premature stop signal in the instructions for making the SBDS protein. It is unclear whether this mutation results in an abnormally shortened protein or prevents any protein from being made.

The features of Shwachman-Diamond syndrome result when mutations impair the normal function of the SBDS protein. Because the protein's function is unknown, researchers have not determined how these mutations underlie the bone marrow abnormalities, increased cancer risk, and other signs and symptoms of this condition.

Where is the SBDS gene located?

Cytogenetic Location: 7q11.21

Molecular Location on chromosome 7: base pairs 66,987,702 to 66,995,600

The SBDS gene is located on the long (q) arm of chromosome 7 at position 11.21.

The SBDS gene is located on the long (q) arm of chromosome 7 at position 11.21.

More precisely, the SBDS gene is located from base pair 66,987,702 to base pair 66,995,600 on chromosome 7.

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 SBDS?

You and your healthcare professional may find the following resources about SBDS 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 SBDS gene or gene products?

  • CGI-97
  • FLJ10917
  • SBDS_HUMAN
  • Sdol1
  • SDS
  • SWDS
  • YLR022c

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 SBDS?

bone marrow ; cancer ; chromosome ; DNA ; gene ; gene conversion ; intron ; molecule ; mutation ; nucleolus ; nucleotide ; protein ; pseudogene ; ribosomes ; RNA ; splice-site mutation ; syndrome

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

References

  • Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005 Aug 15;106(4):1253-8. Epub 2005 Apr 28. (http://www.ncbi.nlm.nih.gov/pubmed/15860664?dopt=Abstract)
  • Boocock GR, Marit MR, Rommens JM. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics. 2006 Jun;87(6):758-71. Epub 2006 Mar 10. (http://www.ncbi.nlm.nih.gov/pubmed/16529906?dopt=Abstract)
  • Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23. (http://www.ncbi.nlm.nih.gov/pubmed/12496757?dopt=Abstract)
  • Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2005 Dec;45(7):892-901. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16047374?dopt=Abstract)
  • Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2. (http://www.ncbi.nlm.nih.gov/pubmed/17475909?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51119)
  • Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sánchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005 May 13;280(19):19213-20. Epub 2005 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/15701634?dopt=Abstract)
  • Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem. 2005 May 13;280(19):19221-9. Epub 2005 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/15701631?dopt=Abstract)
  • Shimamura A. Shwachman-Diamond syndrome. Semin Hematol. 2006 Jul;43(3):178-88. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16822460?dopt=Abstract)
  • Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004 Dec 1;104(12):3588-90. Epub 2004 Jul 29. (http://www.ncbi.nlm.nih.gov/pubmed/15284109?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: December 2007
Published: December 16, 2014