Zfx mutation results in small animal size and reduced germ cell number in male and female mice

Shiuh Wen Luoh, Paul A. Bain, Roberto D. Polakiewicz, Mary L. Goodheart, Humphrey Gardner, Rudolf Jaenisch, David C. Page

    Research output: Contribution to journalArticle

    127 Scopus citations

    Abstract

    The zinc-finger proteins ZFX and ZFY, encoded by genes on the mammalian X and Y chromosomes, have been speculated to function in sex differentiation, spermatogenesis, and Turner syndrome. We derived Zfx mutant mice by targeted mutagenesis. Mutant mice (both males and females) were smaller, less viable, and had fewer germ cells than wild-type mice, features also found in human females with an XO karyotype (Turner syndrome). Mutant XY animals were fully masculinized, with testes and male genitalia, and were fertile, but sperm counts were reduced by one half. Homozygous mutant XX animals were fully feminized, with ovaries and female genitalia, but showed a shortage of oocytes resulting in diminished fertility and shortened reproductive lifespan, as in premature ovarian failure in humans. The number of primordial germ cells was reduced in both XX and XY mutant animals at embryonic day 11.5, prior to gonadal sex differentiation, Zfx mutant animals exhibited a growth deficit evident at embryonic day 12.5, which persisted throughout postnatal life and was not complemented by the Zfy genes. These phenotypes provide the first direct evidence for a role of Zfx in growth and reproductive development.

    Original languageEnglish (US)
    Pages (from-to)2275-2284
    Number of pages10
    JournalDevelopment
    Volume124
    Issue number11
    StatePublished - Jun 1 1997

    Keywords

    • Embryonic growth
    • Germ cells
    • Ovarian failure
    • Sex determination
    • ZFX
    • Zinc-finger protein

    ASJC Scopus subject areas

    • Molecular Biology
    • Developmental Biology

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  • Cite this

    Luoh, S. W., Bain, P. A., Polakiewicz, R. D., Goodheart, M. L., Gardner, H., Jaenisch, R., & Page, D. C. (1997). Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Development, 124(11), 2275-2284.