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Human Molecular Genetics Advance Access published online on January 13, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi058
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Human Molecular Genetics © Oxford University Press 2005; all rights reserved

Article

{zeta}-/- Thalassemic Mice are Affected by Two Modifying Loci and Display Unanticipated Somatic Recombination Leading to Inherited Variation

Aya Leder 1, Jennifer McMenamin 1, Karen Fontaine 1, Alexander Bishop 1, and Philip Leder 1*

1 Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, 77 Avenue Louis Pasteur, Boston, MA 02115

* To whom correspondence should be addressed.
Philip Leder, E-mail: Leder{at}genetics.med.harvard.edu


  Abstract

Thalassemia is a disease caused by a variety of mutations affecting both the adult and embryonic {alpha}- and {beta}-globin loci. A mouse strain carrying an embryonic {zeta}-globin gene disrupted by the insertion of a PGK-Neo cassette displays an {alpha}-thalassemia-like syndrome. Embryonic survival of this {zeta}-null mouse is variable and strongly influenced by genetic background, the 129/SvEv mouse strain displaying a more severe phenotype than C57BL/6. We have identified two modifying loci on C57BL/6 chromosomes 2 and 5 that affect the penetrance of embryonic lethality in the 129/SvEv mouse. Through this work we were able to observe an interesting effect on somatic recombination events in thalassemic embryos. We show that these events can occur on multiple chromosomes in very early embryonic cells, prior to their allocation to the germline. Our results demonstrate that somatic recombination events can be transmitted to subsequent generations.


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