サインイン

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.

The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as genomic imprinting. In genomic imprinting, the DNA coding for the gene or its regulatory sequence is imprinted with chemical tags such as methyl groups, only in the copy inherited from a particular parent. This tag is resistant to demethylation during fertilization and is passed on to the offspring for selective gene expression.

Sometimes two copies of the gene are inherited from the same parent, and the other parent’s gene is missing. Maternal uniparental disomy is when two copies of the mother’s gene are present; in contrast, paternal uniparental disomy is when two copies are inherited from the father. If there are two copies of the silenced allele and if the typically expressed allele is absent, it often leads to a genetic disorder.

Human Diseases Linked to Genomic Imprinting

Diseases in humans linked to genomic imprinting include Beckwith-Wiedemann syndrome, Angelman syndrome, Prader-Willi syndrome, and some cancers.

Prader-Willi and Angelman syndrome are both associated with chromosome 15. Prader-Willi syndrome occurs when there is maternal uniparental disomy. People with this syndrome can display obesity, sexual under-development, and mental disabilities. Angelman syndrome is associated with paternal uniparental disomy. People with this syndrome may show mental disabilities, developmental deficiencies, sleep disorders and hyperactivity.

タグ
Genomic ImprintingGene ExpressionParent offspring InheritanceSomatic CellsDiploid OrganismsAllelesMethylationDemethylationDNA RegulationInsulin like Growth Factor 2 GeneImprintingRegulatory DNA SequenceInsulator ProteinPositive RegulationNegative Regulation

章から 10:

article

Now Playing

10.15 : Genomic Imprinting and Inheritance

遺伝子発現

32.3K 閲覧数

article

10.1 : 細胞特異的遺伝子発現

遺伝子発現

13.1K 閲覧数

article

10.2 : 発現の調節は複数のステップで行われます

遺伝子発現

21.7K 閲覧数

article

10.3 : シス制御配列

遺伝子発現

9.4K 閲覧数

article

10.4 : 転写制御因子の協調的結合

遺伝子発現

6.1K 閲覧数

article

10.5 : 原核生物の転写活性化因子および抑制因子

遺伝子発現

20.0K 閲覧数

article

10.6 : オペロン

遺伝子発現

15.0K 閲覧数

article

10.7 : 真核生物プロモーター領域

遺伝子発現

15.8K 閲覧数

article

10.8 : コアクチベーターとコリプレッサー

遺伝子発現

7.0K 閲覧数

article

10.9 : 真核生物転写活性化剤

遺伝子発現

10.6K 閲覧数

article

10.10 : 真核生物転写阻害剤

遺伝子発現

9.6K 閲覧数

article

10.11 : コンビナトリアル遺伝子制御

遺伝子発現

8.0K 閲覧数

article

10.12 : 人工多能性幹細胞

遺伝子発現

3.4K 閲覧数

article

10.13 : 転写レギュレーターのマスター

遺伝子発現

6.6K 閲覧数

article

10.14 : エピジェネティックな制御

遺伝子発現

24.0K 閲覧数

JoVE Logo

個人情報保護方針

利用規約

一般データ保護規則

研究

教育

JoVEについて

Copyright © 2023 MyJoVE Corporation. All rights reserved