Insights from model systems: the yeast connection to Friedrich ataxia
Article Abstract:
Friedrich ataxia, which initially has neurological symptoms and later progressive abnormalities that lead to early death, usually of congestive heart failure, has a genetic connection to yeast. It is being used to set up a biological model. The underlying gene for FA in FRDA1 (ital), has an unstable trinucleotide-repeat sequence. In yeast YFH1 is homologous and also analogous, calling attention to cell abnormalities in FA. Studies into metal metabolism in yeast showed that iron might be involved in FA. Yeast genetic studies suggested that FA might be linked to altered cellular iron distribution. Biochemical data from mutant yeasts showed possibly mechanisms for FA cell damage. Studying another yeast gene, ATM1 (ital), may give more information.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD (ital) cluster
Article Abstract:
Hemizygosity for the 2q31 region that includes the HOXD (ital) cluster is associated in humans with abnormal genitalia and monodactylous limbs. Two unrelated children with a previously unreported pattern of severe developmental defects on the anterior-posterior limb axis and in the genitalia have been studied. In both heterozygosity for a deletion that takes out at least eight of the nine genes in the HOXD (ital) cluster was found. That the phenotypes are due in part of haploinsufficiency for HOXD-cluster genes is hypothesized. Expression of the genes in early vertebrate embryos supports the hypothesis.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Insights from model systems: genetic causes of female infertility: targeted mutagenesis in mice
Article Abstract:
Genetic causes of female infertility have been studied using targeted mutagenesis in mice. Insights into normal follicular physiology and into human diseases have been gained. Folliculogenesis is a regulated series of events. Likely a fraction of the couples with unexplained infertility have intrinsic gamete abnormalities that prevent normal oocyte-sperm interaction/fertilization.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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