Linked Life Data

11549681

Source:http://linkedlifedata.com/resource/pubmed/id/11549681

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2001-9-10
pubmed:abstractText
Anti-Müllerian hormone belongs to the TGFbeta family whose members exert their effects by signaling through two related serine/threonine kinase receptors. Mutations of the anti-Müllerian hormone type II receptor occur naturally, causing the persistent Müllerian duct syndrome. In a family with two members with persistent Müllerian duct syndrome and one normal sibling, we detected two novel mutations of the anti-Müllerian hormone type II receptor gene. One, transmitted by the mother to her three sons, is a deletion of a single base leading to a stop codon, causing receptor truncation after the transmembrane domain. The other, a missense mutation in the substrate-binding site of the kinase domain, is transmitted by the father to the two sons affected by persistent Müllerian duct syndrome, indicating a recessive autosomal transmission as in other cases of persistent Müllerian duct syndrome. Truncating mutations in receptors of the TGFbeta family exert dominant negative activity, which was seen only when each of the mutant anti-Müllerian hormone receptors was overexpressed in an anti-Müllerian hormone-responsive cell line. We conclude that assessment of dominant activity in vitro, which usually involves overexpression of mutant genes, does not necessarily produce information applicable to clinical conditions, in which mutant and endogenous genes are expressed on a one to one basis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0021-972X
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
4390-7
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:11549681-Animals, pubmed-meshheading:11549681-Anti-Mullerian Hormone, pubmed-meshheading:11549681-Biotin, pubmed-meshheading:11549681-Blotting, Northern, pubmed-meshheading:11549681-COS Cells, pubmed-meshheading:11549681-Child, pubmed-meshheading:11549681-Cloning, Molecular, pubmed-meshheading:11549681-Down-Regulation, pubmed-meshheading:11549681-Genes, Reporter, pubmed-meshheading:11549681-Glycoproteins, pubmed-meshheading:11549681-Growth Inhibitors, pubmed-meshheading:11549681-Humans, pubmed-meshheading:11549681-Male, pubmed-meshheading:11549681-Mullerian Ducts, pubmed-meshheading:11549681-Mutagenesis, Site-Directed, pubmed-meshheading:11549681-Pedigree, pubmed-meshheading:11549681-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:11549681-Receptors, Cell Surface, pubmed-meshheading:11549681-Receptors, Peptide, pubmed-meshheading:11549681-Receptors, Transforming Growth Factor beta, pubmed-meshheading:11549681-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:11549681-Syndrome, pubmed-meshheading:11549681-Testicular Hormones, pubmed-meshheading:11549681-Transfection, pubmed-meshheading:11549681-Transforming Growth Factor beta
pubmed:year
2001
pubmed:articleTitle
Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.
pubmed:affiliation
Unité de Recherches sur l'Endocrinologie du Développement, INSERM, U-493, Département de Biologie, Ecole Normale Supérieure, 92120 Montrouge, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't