Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene

M. Watanabe, K. Abe, M. Aoki, K. Yasuo, Y. Itoyama, M. Shoji, Y. Ikeda, T. Lizuka, M. Ikeda, M. Shizuka, K. Mizushima, S. Hirai

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)


X-linked spinal and bulbar muscular atrophy (SBMA) occurs due to an expansion of the trinucleotide repeat (CAG), in the androgen receptor gene. Anticipation is relatively rare in SBMA in contrast to spinocerebellar ataxia type 1 (SCA1), and dentatorubral and pallidoluysian atrophy (DRPLA) which show obvious paternal anticipation. The differences in the CAG repeat number were compared among sperm, leukocytes and skeletal muscles of SBMA patients. In SBMA, the sperm of most patients and the skeletal muscle of all patients showed the same repeat number as their leukocytes, whereas the increase in the repeat number from leukocytes to sperm was evident in SCA1 and DRPLA patients. The higher mosaicism level in sperm compared with leukocytes was common in SBMA, SCA1 and DRPLA, and the level of sperm was lower in SBMA than in SCA1 and DRPLA. Thus, spermatogenesis was suggested to be strongly associated with paternal anticipation. The mosaicism level was smaller in SBMA than in other (CAG), expanded disorders, and smallest in the SBMA carrier females. These findings demonstrate that the CAG repeat in SBMA is relatively stable in mitotic and meiotic processes, and there is a possibility that the lower mosaicism level of the carrier females compared with the SBMA patients is associated with X-linked recessive inheritance.

Original languageEnglish
Pages (from-to)133-137
Number of pages5
JournalClinical Genetics
Issue number3
Publication statusPublished - Sept 1996
Externally publishedYes


  • Anticipation
  • CAG repeat
  • Cell mosaicism
  • Dentatorubral and pallidoluysian atrophy
  • Skeletal muscle
  • Sperm
  • Spinocerebellar ataxia type 1
  • X-linked spinal and bulbar muscular atrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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