ArticleThe EMBO journal1994
The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene.
Article in The EMBO journal, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 112 citations in OpenAlex.
- Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.PloS one · 2016Trial
- Homocysteine and S-adenosyl-L-homocysteine impair development and methylation in yeast and flies.Disease models & mechanisms · 2026Article
- AHCY: A metabolic gatekeeper at the interface of methylation, redox balance, and cellular stress response.The Journal of biological chemistry · 2026Review
- Inhibition of AHCY impedes proliferation and differentiation of mouse and human adipocyte progenitor cells.Adipocyte · 2024Article
- Whole genome identification, molecular docking and expression analysis of enzymes involved in the selenomethionine cycle in Cardamine hupingshanensis.BMC plant biology · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- One Carbon Metabolism andLivers · 2022Article
- Methyl Metabolism and the Clock: An Ancient Story With New Perspectives.Journal of biological rhythms · 2022Article
- AHCYL1 senses SAH to inhibit autophagy through interaction with PIK3C3 in an MTORC1-independent manner.Autophagy · 2022Article
- Whole-genome analysis ofPeerJ · 2022Article
- S-adenosyl-L-homocysteine hydrolase FgSah1 is required for fungal development and virulence inVirulence · 2021Article
- Functional and Pathological Roles of AHCY.Frontiers in cell and developmental biology · 2021Review
- O-GlcNAcylation regulates the methionine cycle to promote pluripotency of stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Chromatin capture links the metabolic enzyme AHCY to stem cell proliferation.Science advances · 2019Article
- S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice.Molecular genetics and metabolism reports · 2018Article
- Homocysteine regulates fatty acid and lipid metabolism in yeast.The Journal of biological chemistry · 2018Article
- H19 lncRNA alters DNA methylation genome wide by regulating S-adenosylhomocysteine hydrolase.Nature communications · 2015Article
- Disruption of Methionine Metabolism in Drosophila melanogaster Impacts Histone Methylation and Results in Loss of Viability.G3 (Bethesda, Md.) · 2015Article
- Regulation of S-adenosylhomocysteine hydrolase by lysine acetylation.The Journal of biological chemistry · 2014Article
- Allelic variation within the S-adenosyl-L-homocysteine hydrolase gene family is associated with wood properties in Chinese white poplar (Populus tomentosa).BMC genetics · 2014Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
The lethal nonagouti (a(x)) mutation is a hypomorphic allele of the agouti coat color locus which, when homozygous, also leads to embryonic death around the time of implantation. To understand the molecular basis of these phenotypes, we identified and cloned a deletion breakpoint junction present in the ax chromosome. Long range restriction mapping demonstrated a simple deletion of approximately 100 kb, which does not affect agouti coding sequences, but begins only 4 kb 3' of the last exon, and thus may affect coat color by removing an agouti 3' enhancer. The Ahcy gene, which codes for the enzyme S-adenosylhomocysteine hydrolase (SAHase), is contained within a 20 kb region within the a(x) deletion. SAHase RNA and protein were detectable in early blastocysts and in embryonic stem cells, respectively, and analysis of embryos derived from an a(x)/a x a(x)/a embryo intercross indicated that a(x)/a embryos die between the late blastocyst and early implantation stages. Treatment of cultured embryos with an SAHase inhibitor, 3-deazaaristeromycin, or with metabolites that can result in elevated levels of cellular SAH, resulted in an inhibition of inner cell mass development, suggesting that loss of SAHase activity in a(x)/a(x) embryos is sufficient to explain their death around the time of implantation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.