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Gene Review

AFD1  -  acrofacial dysostosis 1, Nager type

Homo sapiens

 
 
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High impact information on AFD1

  • As an outcome of premature sister kinetochore separation in afd1 meiocytes, all of the chromosomes at meiosis II carry single kinetochores [1].
  • The first observable defect in afd1 mutants is the inability to make a leptotene chromosome [2].
  • Alleles of afd1 dissect REC8 functions during meiotic prophase I [2].
  • Rescuing 50% of axial element elongation in the weakest afd1 allele restored bouquet formation demonstrating that extent of telomere clustering depends on axial element elongation [2].
  • In afd1 (absence of first division), a mutant that is defective in many aspects of meiosis including sister chromatid cohesion and has equational separation at metaphase I, staining is restricted to the pericentromeric regions during metaphase I and anaphase I; there is no staining at metaphase II or anaphase II [3].
 

Biological context of AFD1

  • Here we exploit three- and four-dimensional light microscopy and the maize meiotic mutant absence of first division 1 (afd1) to investigate the properties of single kinetochores [1].

References

  1. Functional redundancy in the maize meiotic kinetochore. Yu, H.G., Dawe, R.K. J. Cell Biol. (2000) [Pubmed]
  2. Alleles of afd1 dissect REC8 functions during meiotic prophase I. Golubovskaya, I.N., Hamant, O., Timofejeva, L., Wang, C.J., Braun, D., Meeley, R., Cande, W.Z. J. Cell. Sci. (2006) [Pubmed]
  3. Phosphorylation of histone H3 is correlated with changes in the maintenance of sister chromatid cohesion during meiosis in maize, rather than the condensation of the chromatin. Kaszás, E., Cande, W.Z. J. Cell. Sci. (2000) [Pubmed]
 
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