Variation in MLH1 distribution in recombination maps for individual chromosomes from human males

Fei Sun, Maria Oliver-Bonet, Thomas Liehr, Heike Starke, Paul Turek, Evelyn Ko, Alfred Rademaker, Renée H. Martin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

62 Scopus citations


Meiotic recombination is essential for the segregation of homologous chromosomes and the formation of normal haploid gametes. Little is known about patterns of meiotic recombination in human germ cells or the mechanisms that control these patterns. Documentation of the normal range of variability of recombination distribution over the genome among individuals is an essential prerequisite for understanding abnormal recombination patterns, which may be associated with non-disjunction and chromosome rearrangements. In this article, variation in recombination maps for individual chromosomes among 10 normal human males is examined for the first time. An immunocytogenetic approach allowed analysis of pachytene cells, using antibodies to detect the mature synaptonemal complex (SCP1/SCP3), the centromere (CREST) and sites of crossing over (MLH1). Individual bivalents were identified with centromere-specific multicolor fluorescence in situ hybridization. Significant heterogeneity in MLH1 focus frequency across donors was observed for larger chromosome arms (P <0.05, one-way ANOVA). Significant inter-donor variation in the overall crossover frequency per cell was also found (P <0.0001, one-way ANOVA). Furthermore, several chromosome arms showed significant differences in crossover distribution along the SCs among donors. Inter-individual variation in interference distances was observed for all chromosomes. The significance of altered recombination patterns among individuals and the role of interference are discussed.

Original languageEnglish (US)
Pages (from-to)2376-2391
Number of pages16
JournalHuman molecular genetics
Issue number15
StatePublished - Aug 1 2006

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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