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Genetics Home Reference: your guide to understanding genetic conditions
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H19

Reviewed April 2008

What is the official name of the H19 gene?

The official name of this gene is “H19, imprinted maternally expressed transcript (non-protein coding).”

H19 is the gene's official symbol. The H19 gene is also known by other names, listed below.

What is the normal function of the H19 gene?

The H19 gene provides instructions for making a molecule called a noncoding RNA. (RNA is a chemical cousin of DNA.) Unlike many genes, the H19 gene does not contain instructions for making a protein. The function of the gene is unknown, but researchers believe that it may act as a tumor suppressor, keeping cells from growing and dividing too fast or in an uncontrolled way. This gene is highly active before birth and may play an important role in early development.

People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. The H19 gene, however, is active only when it is inherited from a person's mother. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.

H19 is part of a cluster of genes on the short (p) arm of chromosome 11 that undergo genomic imprinting. Another gene in this cluster, IGF2, is also involved in growth and development. A nearby region of DNA known as imprinting center 1 (ICR1) or the H19 differentially methylated region (H19 DMR) controls the parent-specific genomic imprinting of both the H19 and IGF2 genes.

How are changes in the H19 gene related to health conditions?

Beckwith-Wiedemann syndrome - associated with the H19 gene

Beckwith-Wiedemann syndrome often results from changes in a process called methylation that affects the ICR1 region. In genes that undergo genomic imprinting, the parent of origin is often marked, or "stamped," on the gene during the formation of egg and sperm cells. This stamping process, called methylation, is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.

In many people with Beckwith-Wiedemann syndrome, the ICR1 region has too many methyl groups attached (hypermethylation). Because the ICR1 region controls the genomic imprinting of the H19 and IGF2 genes, this abnormality disrupts the regulation of both genes. Specifically, hypermethylation of the ICR1 region leads to a loss of H19 gene activity and increased activity of the IGF2 gene in many tissues. A loss of H19 gene activity, which normally restrains growth, and an increase in IGF2 gene activity, which promotes growth, together lead to overgrowth and an increased risk of tumors in people with Beckwith-Wiedemann syndrome.

In a few cases, Beckwith-Wiedemann syndrome has been caused by deletions of a small amount of DNA from the ICR1 region. Like abnormal methylation, these deletions disrupt the activity of the H19 and IGF2 genes.

Russell-Silver syndrome - associated with the H19 gene

Changes in methylation of the ICR1 region are also responsible for some cases of Russell-Silver syndrome. The changes are different than those seen in Beckwith-Wiedemann syndrome and have the opposite effect on growth.

In Russell-Silver syndrome, the ICR1 region often has too few methyl groups attached (hypomethylation). Hypomethylation of the ICR1 region leads to a loss of IGF2 gene activity and increased activity of the H19 gene in many tissues. A loss of IGF2 gene activity, which normally promotes growth, and an increase in H19 gene activity, which restrains growth, together lead to poor growth and short stature in people with Russell-Silver syndrome.

Where is the H19 gene located?

Cytogenetic Location: 11p15.5

Molecular Location on chromosome 11: base pairs 1,995,175 to 1,997,834

The H19 gene is located on the short (p) arm of chromosome 11 at position 15.5.

The H19 gene is located on the short (p) arm of chromosome 11 at position 15.5.

More precisely, the H19 gene is located from base pair 1,995,175 to base pair 1,997,834 on chromosome 11.

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 H19?

You and your healthcare professional may find the following resources about H19 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 H19 gene or gene products?

  • ASM
  • ASM1
  • BWS
  • D11S813E
  • H19, imprinted maternally expressed transcript
  • LINC00008
  • MGC4485
  • PRO2605

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 H19?

chromosome ; DNA ; egg ; epigenetic ; expressed ; gene ; imprinting ; inherit ; inherited ; methyl ; methylation ; molecule ; protein ; RNA ; short stature ; sperm ; stature ; syndrome ; transcript ; tumor

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

References

  • Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18156438?dopt=Abstract)
  • Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet. 2006 Apr;78(4):604-14. Epub 2006 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/16532391?dopt=Abstract)
  • Cai X, Cullen BR. The imprinted H19 noncoding RNA is a primary microRNA precursor. RNA. 2007 Mar;13(3):313-6. Epub 2007 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/17237358?dopt=Abstract)
  • Delaval K, Wagschal A, Feil R. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays. 2006 May;28(5):453-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16615080?dopt=Abstract)
  • Eggermann T, Eggermann K, Schönherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18329128?dopt=Abstract)
  • Gabory A, Ripoche MA, Yoshimizu T, Dandolo L. The H19 gene: regulation and function of a non-coding RNA. Cytogenet Genome Res. 2006;113(1-4):188-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16575179?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/283120)
  • Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet. 2004 Sep;36(9):958-60. Epub 2004 Aug 15. (http://www.ncbi.nlm.nih.gov/pubmed/15314640?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 2008
Published: April 13, 2015