Disease relevance of mab-21

• Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects [1].

High impact information on mab-21

• cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat [2].
• This amino acid sequence is homologous (56% amino acid identify and 81% amino acid conservation) to the Caenorhabditis elegans cell fate-determining protein mab-21 [2].
• Each of the changes in cell fate brought about by mab-21 mutants can be interpreted as a posterior-to-anterior homeotic transformation. mab-21 mutant males and hermaphrodites have additional pleiotropic phenotypes affecting movement, body shape and fecundity, indicating that mab-21 has functions outside the tail region of males [3].
• In situ hybridization results showed that expression of these mab21 genes marked the early differentiating olfactory bulbs, eye primordia, midbrain and subsequently the branchial pouches and neural tube [4].
• We showed here that the expression of mab-21 in the hypodermis and neuronal cells was dispensable for its function in ray 6 [5].

Biological context of mab-21

• BACKGROUND: Through in vivo loss-of-function studies, vertebrate members of the Male abnormal 21 (mab-21) gene family have been implicated in gastrulation, neural tube formation and eye morphogenesis [6].

Anatomical context of mab-21

• Mammalian homologs of mab-21 have also been implicated to play critical roles in mid-, hindbrain and craniofacial differentiation [7].

References