Chromosome 11

People normally inherit one copy of chromosome 11 from each parent. For most genes on this chromosome, both copies of the gene are expressed, or "turned on," in cells. For some genes in the 11p15.5 region, however, only the copy inherited from a person's father (the paternally inherited copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Researchers have determined that changes in genomic imprinting disrupt the regulation of several genes located at 11p15.5, including CDKN1C, H19, IGF2, and KCNQ1OT1. Because these genes are involved in directing normal growth, problems with their regulation lead to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome.

• Publication year

  2020

• Venue

  Definitions

• Publication date

  2020-02-02

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1038/npg.els.0005820
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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