Hypohidrotic ectodermal dysplasia (HED) is found worldwide with an estimated incidence of 1 per 100,000 births. X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form of the ectodermal dysplasias (ED), a rare group of hereditary diseases characterized by abnormal development of eccrine sweat glands, hair, and teeth. Heterozygous carriers of XLHED often manifest minor or moderate degrees of hypotrichosis, hypodontia, and hypohidrosis. ED1, the gene for XLHED encodes ectodysplasin A, which is a new member of the tumour necrosis factor family. The majority of mutations in XLHED are missense mutations, but one-fifth are insertion/deletions. Here we report a novel 7-bp deletion mutation (nt1242-1248) in exon 9 of the ED1 gene that results in a frameshift and premature stop codon (PTC + 38 amino acids). Mutation analysis in families with XLHED allows for genetic counselling, prenatal diagnosis and confirmation of carrier status.
Background: The cropping area of genetically modified (GM) crops has constantly increased since 1996. However, currently, cultivating GM crops is associated with many concerns. Transgenes are transferred to non-GM crops through pollen-mediated gene flow, which causes environmental problems such as superweeds and introgressive hybridization. Rapeseed (Brassica napus L.), which has many GM varieties, is one of the most crucial oil crops in the world. Hybridization between Brassica species occurs spontaneously. B. rapa grows in fields as a weed and is cultivated as a crop for various purposes. Both B. rapa weeds and crops participate in gene flow among rapeseed. Therefore, gene flow risk and the coexistence of these two species should be studied. Results: In this study, field experiments were conducted at two sites for 4 years to evaluate gene flow risk. In addition, zero-inflated models were used to address the problem of excess zero values and data overdispersion. The difference in the number of cross-pollination (CP) events was nonsignificant between upwind and downwind plots. The CP rate decreased as the distance increased. The average CP rates at distances of 0.35 and 12.95 m were 2.78% and 0.028%, respectively. In our results, zero-inflated negative binomial models were comprehensively superior to zeroinflated Poisson models. The models predicted isolation distances of approximately 1.36 and 0.43 m for the 0.9% and 3% threshold labeling levels, respectively. Conclusions: Cultivating GM crops is prohibited in Taiwan; however, the study results can provide a reference for the assessment of gene flow risk and the coexistence of these two species in Asian countries establishing policies for GM crops.
Male sterility has been widely used in hybrid seed production in Brassica, but not in B. rapa ssp. chinensis, and genetic models of male sterility for this subspecies are unclear. We discovered a spontaneous mutant in B. rapa ssp. chinensis. A series of progeny tests indicated that male sterility in B. rapa ssp. chinensis follows a three-allele model with BrMsa, BrMsb, and BrMsc. The male sterility locus has been mapped to chromosome A07 in BC1 and F2 populations through genotyping by sequencing. Fine mapping in a total of 1,590 F2 plants narrowed the male sterility gene BrMs to a 400 kb region, with two SNP markers only 0.3 cM from the gene. Comparative gene mapping shows that the Ms gene in B. rapa ssp. pekinensis is different from the BrMs gene of B. rapa ssp. chinensis, despite that both genes are located on chromosome A07. Interestingly, the DNA sequence orthologous to a male sterile gene in Brassica napus, BnRf, is within 400 kb of the BrMs locus. The BnRf orthologs of B. rapa ssp. chinensis were sequenced, and one KASP marker (BrMs_indel) was developed for genotyping based on a 14 bp indel at intron 4. Cosegregation of male sterility and BrMs_indel genotypes in the F2 population indicated that BnRf from B. napus and BrMs from B. rapa are likely to be orthologs. The BrMs_indel marker developed in this study will be useful in marker-assisted selection for the male sterility trait.
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