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It is now known that there are at least 80 imprinted genes in humans and mice, many of which are involved in embryonic and placental growth and development. [12] [27] [28] [29] Hybrid offspring of two species may exhibit unusual growth due to the novel combination of imprinted genes. [30] Various methods have been used to identify imprinted genes.
The GNAS1 gene involved in both pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism is greatly affected by imprinting. When a father who has pseudohypoparathyroidism undergoes spermatogenesis, imprinting of the GNAS1 gene inactivates both copies of his genes: one will be functional, and the other will be defective. Tissues in ...
The ability of enhancers to activate imprinted genes is dependent on the presence of an insulator on the unmethylated allele between the two genes. An example of this is the Igf2-H19 imprinted locus. In this locus the CTCF protein regulates imprinted expression by binding to the unmethylated maternal imprinted control region (ICR) but not on ...
In humans, the IGF2 gene is located on chromosome 11p15.5, a region which contains numerous imprinted genes.In mice this homologous region is found at distal chromosome 7. In both organisms, IGF2 is imprinted, with expression resulting favourably from the paternally inherited allele.
Genes are imprinted differently depending on the parental origin of the chromosome that contains them. In mice, the insulin-like growth factor 2 gene undergoes imprinting. The protein encoded by this gene helps to regulate body size. Mice that possess two functional copies of this gene are larger than those with two mutant copies.
Imprinting is the process by which one parental allele is silenced while the allele from the other parent is expressed. The human GRB10 gene displays imprinted gene expression, and in mice, this imprinted Grb10 expression is enabled by the presence of bivalent chromatin. [4]
283120 n/a Ensembl ENSG00000130600 ENSG00000288237 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 11: 2 – 2 Mb n/a PubMed search n/a Wikidata View/Edit Human H19 is a gene for a long noncoding RNA, found in humans and elsewhere. H19 has a role in the negative regulation (or limiting) of body weight and cell proliferation. This gene also has a role in ...
Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems. [citation needed]