Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells - PubMed (original) (raw)

. 1995 Nov;57(5):1019-27.

Affiliations

• PMID: 7485150
• PMCID: PMC1801389

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells

N A Ellis et al. Am J Hum Genet. 1995 Nov.

Erratum in

• Am J Hum Genet 1996 Jan;58(1):254

Abstract

Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low-SCE mosaicism; conversely, mosaicism arises predominantly in persons who do not share a common ancestor. These population data suggested that most persons with Bloom syndrome in whom the exceptional low-SCE cells arise are not homozygous for a mutation at BLM but instead are compound heterozygotes. Following this clue, we carried out a genotype analysis of loci syntenic with BLM in 11 persons who exhibited mosaicism. In five of them, polymorphic loci distal to BLM that were heterozygous in their high-SCE cells had become homozygous in their low-SCE cells, whereas heterozygous loci proximal to BLM remained heterozygous. These observations are interpreted to mean that intragenic recombination between paternally derived and maternally derived mutated sites within BLM can generate a functionally wild-type gene and that low-SCE lymphocytes are progeny of a somatic cell in which such intragenic recombination had occurred.

PubMed Disclaimer

Comment in

Similar articles

• Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
  Ellis NA, Ciocci S, German J. Ellis NA, et al. Hum Genet. 2001 Feb;108(2):167-73. doi: 10.1007/s004390000447. Hum Genet. 2001. PMID: 11281456
• Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity.
  German J, Ellis NA, Proytcheva M. German J, et al. Clin Genet. 1996 May;49(5):223-31. doi: 10.1111/j.1399-0004.1996.tb03778.x. Clin Genet. 1996. PMID: 8832129
• A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
  Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H. Ben Salah G, et al. Mol Biol Rep. 2014 Nov;41(11):7373-80. doi: 10.1007/s11033-014-3624-5. Epub 2014 Aug 17. Mol Biol Rep. 2014. PMID: 25129257
• Bloom syndrome: is the gene mapped to the point?
  Bamezai R. Bamezai R. Indian J Exp Biol. 1996 Apr;34(4):298-301. Indian J Exp Biol. 1996. PMID: 8698416 Review.
• Molecular genetics of Bloom's syndrome.
  Ellis NA, German J. Ellis NA, et al. Hum Mol Genet. 1996;5 Spec No:1457-63. doi: 10.1093/hmg/5.supplement_1.1457. Hum Mol Genet. 1996. PMID: 8875252 Review.

Cited by

• Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.
  Farcy S, Hachour H, Bahi-Buisson N, Passemard S. Farcy S, et al. Cells. 2023 Jul 7;12(13):1807. doi: 10.3390/cells12131807. Cells. 2023. PMID: 37443841 Free PMC article. Review.
• Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.
  van den Akker PC, Bolling MC, Pasmooij AMG. van den Akker PC, et al. Biomedicines. 2022 Aug 29;10(9):2118. doi: 10.3390/biomedicines10092118. Biomedicines. 2022. PMID: 36140224 Free PMC article. Review.
• The CDK1-TOPBP1-PLK1 axis regulates the Bloom's syndrome helicase BLM to suppress crossover recombination in somatic cells.
  Balbo Pogliano C, Ceppi I, Giovannini S, Petroulaki V, Palmer N, Uliana F, Gatti M, Kasaciunaite K, Freire R, Seidel R, Altmeyer M, Cejka P, Matos J. Balbo Pogliano C, et al. Sci Adv. 2022 Feb 4;8(5):eabk0221. doi: 10.1126/sciadv.abk0221. Epub 2022 Feb 4. Sci Adv. 2022. PMID: 35119917 Free PMC article.
• Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?
  Kaur E, Agrawal R, Sengupta S. Kaur E, et al. Front Genet. 2021 Mar 12;12:634789. doi: 10.3389/fgene.2021.634789. eCollection 2021. Front Genet. 2021. PMID: 33777104 Free PMC article. Review.
• Structural Aspects of DNA Repair and Recombination in Crop Improvement.
  Verma P, Tandon R, Yadav G, Gaur V. Verma P, et al. Front Genet. 2020 Sep 11;11:574549. doi: 10.3389/fgene.2020.574549. eCollection 2020. Front Genet. 2020. PMID: 33024442 Free PMC article. Review.

References

1. 1. Cancer Res. 1983 Aug;43(8):3836-40 - PubMed
2. 1. Am J Hum Genet. 1988 Jun;42(6):816-24 - PubMed
3. 1. Proc Natl Acad Sci U S A. 1981 May;78(5):3133-7 - PubMed
4. 1. Genetics. 1936 Nov;21(6):625-730 - PubMed
5. 1. Proc Natl Acad Sci U S A. 1989 Jan;86(2):670-4 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations Database

• Molecular Biology Databases

  • The Weizmann Institute of Science GeneCards and MalaCards databases