ArticleAmerican journal of human genetics1993
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 73 citations in OpenAlex.
- The Clinical Genetics of Hemophilia B (Factor IX Deficiency).The application of clinical genetics · 2021Review
- Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.Thrombosis and haemostasis · 2013Article
- Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.Human genetics · 2004Article
- Estimate of the mutation rate per nucleotide in humans.Genetics · 2000Article
- Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.American journal of human genetics · 1999Article
- Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.American journal of human genetics · 1999Article
- Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.American journal of human genetics · 1999Article
- Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.American journal of human genetics · 1999Article
- The causes of synonymous rate variation in the rodent genome. Can substitution rates be used to estimate the sex bias in mutation rate?Genetics · 1999Article
- Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution.American journal of human genetics · 1998Article
- Molecular evidence from the nuclear genome for the time frame of human evolution.Journal of molecular evolution · 1997Article
- Expression of DAZ, an azoospermia factor candidate, in human spermatogonia.American journal of human genetics · 1997Article
- High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.American journal of human genetics · 1996Article
- Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.American journal of human genetics · 1996Article
- A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Journal of medical genetics · 1996Article
- Estimating the intensity of male-driven evolution in rodents by using X-linked and Y-linked Ube 1 genes and pseudogenes.Journal of molecular evolution · 1995Article
- Contrasting rates of nucleotide substitution in the X-linked and Y-linked zinc finger genes.Journal of molecular evolution · 1994Article
- Germ line origins of de novo mutations in hemophilia B families.Human genetics · 1994Article
- Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.Journal of medical genetics · 1994Article
- On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.Journal of medical genetics · 1994Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, we report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by us, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, transitions at the dinucleotide CpG show the largest male predominance (11-fold). In contrast to single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males.
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8434583PMC1682121W1586519347What OpenQuestion holds
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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.