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 language | English (US) |
|---|---|
| Pages (from-to) | 2275-2284 |
| Number of pages | 10 |
| Journal | Development |
| Volume | 124 |
| Issue number | 11 |
| State | Published - Jun 1997 |
| Externally published | Yes |
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Keywords
- Embryonic growth
- Germ cells
- Ovarian failure
- Sex determination
- ZFX
- Zinc-finger protein
ASJC Scopus subject areas
- Anatomy
- Cell Biology
Cite this
Zfx mutation results in small animal size and reduced germ cell number in male and female mice. / Luoh, Shiuh-Wen; Bain, Paul A.; Polakiewicz, Roberto D.; Goodheart, Mary L.; Gardner, Humphrey; Jaenisch, Rudolf; Page, David C.
In: Development, Vol. 124, No. 11, 06.1997, p. 2275-2284.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Zfx mutation results in small animal size and reduced germ cell number in male and female mice
AU - Luoh, Shiuh-Wen
AU - Bain, Paul A.
AU - Polakiewicz, Roberto D.
AU - Goodheart, Mary L.
AU - Gardner, Humphrey
AU - Jaenisch, Rudolf
AU - Page, David C.
PY - 1997/6
Y1 - 1997/6
N2 - 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.
AB - 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.
KW - Embryonic growth
KW - Germ cells
KW - Ovarian failure
KW - Sex determination
KW - ZFX
KW - Zinc-finger protein
UR - http://www.scopus.com/inward/record.url?scp=0030806302&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030806302&partnerID=8YFLogxK
M3 - Article
VL - 124
SP - 2275
EP - 2284
JO - Development (Cambridge)
JF - Development (Cambridge)
SN - 0950-1991
IS - 11
ER -