| Biology of KAL1 and its orthologs: implications for X-linked Kallmann syndrome and the search for novel candidate genes. | |
| | |
MedLine Citation:
|
PMID: 20389086 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Kallmann syndrome is characterised by congenital hypogonadotropic hypogonadism and anosmia, sometimes with other non-reproductive defects. Although multiple genetic pathways are now known to be involved in the development of this disorder, KAL1, the gene causing the X-linked form of Kallmann syndrome was the first to be identified. It has thus been extensively studied both in vitro and in vivo, though the absence of an identifiable murine ortholog has denied researchers the opportunity to create and study Kal-1 knock-out mice. This review looks at several studies in species with a kal-1 ortholog, revealing functional similarities with the human disorder. Further work has shown that the kal-1 domain structure is maintained across genera, that it controls similar morphological and cellular processes during development, and that data from the nematode Caenorhabditis elegans, in particular, may point to novel human candidate genes. |
| | |
Authors:
|
Gavin S MacColl; Richard Quinton; Hannes E Bülow |
Related Documents
:
|
12966526 - Left-sided child syndrome caused by a nonsense mutation in the nsdhl gene. 16550546 - Mutational data integration in gene-oriented files of the hermansky-pudlak syndrome dat... 12545276 - Duplication of the mid1 first exon in a patient with opitz g/bbb syndrome. 11509016 - A novel mutation in surf1 causes skipping of exon 8 in a patient with cytochrome c oxid... 12639456 - Pimozide: use in dermatology. 7788106 - Vigabatrin in the management of generalized seizures in children. |
Publication Detail:
|
Type: Journal Article; Review Date: 2010-04-08 |
Journal Detail:
|
Title: Frontiers of hormone research Volume: 39 ISSN: 1662-3762 ISO Abbreviation: Front Horm Res Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-04-14 Completed Date: 2010-12-06 Revised Date: 2011-03-25 |
Medline Journal Info:
|
Nlm Unique ID: 0320246 Medline TA: Front Horm Res Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 62-77 Citation Subset: IM |
Copyright Information:
|
Copyright 2010 S. Karger AG, Basel. |
Affiliation:
|
Endocrine Research Group, Institute of Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Caenorhabditis elegans Cell Movement / genetics Extracellular Matrix Proteins / genetics*, physiology Genes, X-Linked* Gonadotropin-Releasing Hormone / physiology Heparitin Sulfate / metabolism Humans Kallmann Syndrome / genetics* Mice Nerve Tissue Proteins / genetics*, physiology Neurons / physiology Phylogeny Sequence Homology |
| Chemical | |
Reg. No./Substance:
|
0/Extracellular Matrix Proteins; 0/KAL1 protein, human; 0/Nerve Tissue Proteins; 33515-09-2/Gonadotropin-Releasing Hormone; 9050-30-0/Heparitin Sulfate |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: FGFR1 mutations in Kallmann syndrome.
Next Document: Biological actions and interactions of anosmin-1.