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基因组印记:具有单亲来源性染色体的雄性小鼠。

Genomic imprinting: male mice with uniparentally derived sex chromosomes.

作者信息

Handel M A, Hunt P A

机构信息

Department of Zoology and Graduate Program in Cellular, Molecular, and Developmental Biology, University of Tennessee, Knoxville 37996-0810.

出版信息

Mol Reprod Dev. 1991 Apr;28(4):337-40. doi: 10.1002/mrd.1080280404.

DOI:10.1002/mrd.1080280404
PMID:2064776
Abstract

Although it has been known that there is an X-chromosome imprinting effect during early embryogenesis in female mammals, it remains unknown if parental origin of the X chromosome has an effect in males. Furthermore, it has not been possible to produce animals with normal sex chromosomes of uniparental origin to further evaluate such imprinting effects. We have devised a breeding scheme to produce male mice, designated XPYP males, in which both the X and Y chromosomes are paternally inherited. To our knowledge, these are the first mammals produced that have a normal sex chromosome constitution but with both sex chromosomes derived from one parent. Development and reproduction in these XPYP males and the sex ratio and chromosome constitution of their offspring appeared normal; thus there is no apparent effect in males of having both sex chromosomes derive from one parent or of having the X chromosome derived from an inappropriate parent. Although we have detected no X-chromosome imprinting effect in these males, evidence from other sources suggest that the X chromosome is parentally imprinted. Thus detection and definition of an imprint can depend on the assay used.

摘要

尽管已知在雌性哺乳动物的早期胚胎发育过程中存在X染色体印记效应,但X染色体的亲本来源在雄性中是否有影响仍不清楚。此外,还无法产生具有单亲来源正常性染色体的动物来进一步评估这种印记效应。我们设计了一种育种方案来产生雄性小鼠,称为XPYP雄性小鼠,其中X和Y染色体均为父系遗传。据我们所知,这些是首批产生的具有正常性染色体组成但两条性染色体均来自一方亲本的哺乳动物。这些XPYP雄性小鼠的发育和繁殖以及它们后代的性别比例和染色体组成看起来正常;因此,两条性染色体均来自一方亲本或X染色体来自不适当亲本的情况在雄性中没有明显影响。尽管我们在这些雄性小鼠中未检测到X染色体印记效应,但其他来源的证据表明X染色体存在亲本印记。因此,印记的检测和定义可能取决于所使用的检测方法。

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1
Exclusively paternal X chromosomes in a girl with short stature.一名身材矮小女童仅存在父源X染色体。
Hum Genet. 1993 Sep;92(2):175-8. doi: 10.1007/BF00219687.