Linked Life Data

19339788

Source:http://linkedlifedata.com/resource/pubmed/id/19339788

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-5-14
pubmed:abstractText
MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X open reading frame 6), has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense-mediated mRNA decay, in patients with penoscrotal hypospadias. Subsequent studies have shown that (1) the mouse homolog is transiently expressed in fetal Sertoli and Leydig cells around the critical period of sex development; (2) transient knockdown of MAMLD1 results in significantly reduced testosterone production in murine Leydig tumor cells; (3) MAMLD1 protein shares homology to mastermind-like 2 (MAML2) protein that functions as a co-activator in canonical Notch signaling; (4) MAMLD1 localizes to the nuclear bodies and transactivates the promoter activity of a non-canonical Notch target gene hairy/enhancer of split 3 (Hes3), rather than the canonical Notch target genes such as Hes1 and Hes5, without demonstrable DNA-binding capacity, and (5) MAMLD1 is regulated by steroidogenic factor 1. These findings suggest that the MAMLD1 mutations cause hypospadias primarily because of compromised testosterone production around the critical period of sex development, and provide useful information for the molecular network involved in fetal testosterone production.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1423-0046
pubmed:author
pubmed:copyrightInfo
Copyright 2009 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
245-52
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
MAMLD1 (CXorf6): a new gene involved in hypospadias.
pubmed:affiliation
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan. tomogata@nch.go.jp
pubmed:publicationType
Journal Article, Review