Heritability of X chromosome--inactivation phenotype in a large family
| Autor: | Naumova, A. K., Plenge, R. M., Bird, L. M., Leppert, M., Morgan, K., Willard, H. F., Sapienza, C. |
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| Rok vydání: | 1996 |
| Předmět: |
Male
Polymorphism Genetic RNA Untranslated X Chromosome Base Sequence Molecular Sequence Data DNA Methylation Polymerase Chain Reaction Pedigree Genomic Imprinting Phenotype Receptors Androgen Reference Values Humans Female RNA Long Noncoding Lymphocytes Alleles Sex Chromosome Aberrations DNA Primers Transcription Factors Research Article |
| Zdroj: | American journal of human genetics. 58(6) |
| ISSN: | 0002-9297 |
| Popis: | One of the two X chromosomes in each somatic cell of normal human females becomes inactivated very early in embryonic development. Although the inactivation of an X chromosome in any particular somatic cell of the embryonic lineage is thought to be a stochastic and epigenetic event, a strong genetic influence on this process has been described in the mouse. We have attempted to uncover evidence for genetic control of X-chromosome inactivation in the human by examining X chromosome-inactivation patterns in 255 females from 36 three-generation pedigrees, to determine whether this quantitative character exhibits evidence of heritability. We have found one family in which all seven daughters of one male and the mother of this male have highly skewed patterns of X-chromosome inactivation, suggesting strongly that this quantitative character is controlled by one or more X-linked genes in some families. |
| Databáze: | OpenAIRE |
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