About: Germline mosaicism

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Germline mosaicism Goto Sponge NotDistinct Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)
QRcode icon

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FGermline_mosaicism

Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence.

Attributes	Values
rdf:type	disease
rdfs:label	Germline mosaicism (en)
rdfs:comment	Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. (en)
dcterms:subject	Genetics
Wikipage page ID	18487326 (xsd:integer)
Wikipage revision ID	1100551425 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutant Mutation Methylation Allele Hypertrophic cardiomyopathy Genetic analysis Gamete Autosomal dominant Alleles Duchenne muscular dystrophy Osteogenesis imperfecta Genetics Somatic cell Multiplex ligation-dependent probe amplification Sanger sequencing Southern blot Epigenetic regulation Somatic mosaicism Germ line Sporadic mutation Genetic counselling Genetic mosaicism
sameAs	Germline mosaicism Germline mosaicism Germline mosaicism Germline mosaicism
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Short_description dbt:Reliable_source%3F
has abstract	Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism. It is possible for parents unaffected by germline mutations to produce an offspring with an autosomal dominant (AD) disorder due to a random new mutation within one’s gamete cells known as sporadic mutation; however, if these parents produce more than one child with an AD disorder, germline mosaicism is more likely the cause than a sporadic mutation. In the first documented case of its kind, two offspring of a French woman who had no phenotypic expression of the AD disorder hypertrophic cardiomyopathy, inherited the disease. (en)
gold:hypernym	Condition
prov:wasDerivedFrom	wikipedia-en:Germline_mosaicism?oldid=1100551425&ns=0
page length (characters) of wiki page	11548 (xsd:nonNegativeInteger)
foaf:isPrimaryTopicOf	wikipedia-en:Germline_mosaicism
is Link from a Wikipage to another Wikipage of	Rubinstein–Taybi syndrome Oto-palato-digital syndrome Germline Mosaicism Treacher Collins syndrome Hecht Scott syndrome Adrenoleukodystrophy Familial adenomatous polyposis Okamoto syndrome Germinal mosaicism Gonadal mosaicism
is Wikipage redirect of	Germline Mosaicism Germinal mosaicism Gonadal mosaicism
is foaf:primaryTopic of	wikipedia-en:Germline_mosaicism

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Sep 2 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (62 GB total memory, 43 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software