"Nature and Nurture"

Hogben, Lancelot

doi:10.1016/s0140-6736(00)82201-1

Cited by 23 publications

(20 citation statements)

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“…Of course, the differences in genetic background and the environment can certainly account for the phenotypic differences between the two brothers. This phenomenon has been well known for many years in genetics [74,75], but seems to be more recently appreciated and has become a current active research topic [76][77][78][79][80]. Other work .…”

Section: Discussionmentioning

confidence: 95%

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Lyon

2015

Preprint

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We describe the discovery of a new genetic syndrome, RykDax syndrome, driven by a whole genome sequencing (WGS) study of one family from Utah with two affected male brothers, presenting with severe intellectual disability (ID), a characteristic intergluteal crease, and very distinctive facial features including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin. This Caucasian family was recruited from Utah, USA. Illumina-based WGS was performed on 10 members of this family, with additional Complete Genomics-based WGS performed on the nuclear portion of the family (mother, father and the two affected males). Using WGS datasets from 10 members of this family, we can increase the reliability of the biological inferences with an integrative bioinformatic pipeline. In combination with insights from clinical evaluations and medical diagnostic analyses, these DNA sequencing data were used in the study of three plausible genetic disease models that might uncover genetic contribution to the syndrome. We found a 2 to 5-fold difference in the number of variants detected as being relevant for various disease models when using different sets of sequencing data and analysis pipelines. We derived greater accuracy when more pipelines were used in conjunction with data encompassing a larger portion of the family, with the number of putative de-novo mutations being reduced by 80%, due to false negative calls in the parents. The boys carry a maternally inherited missense variant in a X-chromosomal gene TAF1, which we consider as disease relevant. TAF1 is the largest subunit of the general transcription factor IID (TFIID) multi-protein complex, and our results implicate mutations in TAF1 as playing a critical role in the development of this new intellectual disability syndrome.

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Section: Discussionmentioning

confidence: 95%

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Lyon

2015

Preprint

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“…When he saw this in August, 1951, the writer accepted the suggestion put to him six months before by a colleague, Dr. William Hamilton, that the data point to direct genetic action, but this two-fold decline also hints at some environmental factor. Hogben (1939) has said: Several things point to the importance of studying the influence of the uterine environment upqn the characteristics of individuals. One is the high incidence of certain conditions amongst first-born children.…”

Section: Resultsmentioning

confidence: 99%

ABO Blood Groups and Human Fertility

Allan¹

1953

Journal of Epidemiology & Community Health

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“…As a mathematical structure, the NoR map is the complement of the GP map and has to be indexed by each genotype g belonging to the set of genotypes, G . The topological properties of a set of NoRs for different genotypes within a population allow inferences to be drawn about the nature of genotype–environment interactions (Hogben 1933; Lewontin 1974; Sarkar 1998). Whether an analogous claim can be made about the GP map remains unclear.…”

Section: Introductionmentioning

confidence: 99%

Generalized norms of reaction for ecological developmental biology

Sarkar

Fuller

2002

Evolution and Development

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A standard norm of reaction (NoR) is a graphical depiction of the phenotypic value of some trait of an individual genotype in a population as a function an environmental parameter. NoRs thus depict the phenotypic plasticity of a trait. The topological properties of NoRs for sets of different genotypes can be used to infer the presence of (non-linear) genotype-environment interactions. While it is clear that many NoRs are adaptive, it is not yet settled whether their evolutionary etiology should be explained by selection on the mean phenotypic trait values in different environments or whether there are specific genes conferring plasticity. If the second alternative is true the NoR is itself an object of selection. Generalized NoRs depict plasticity at the level of populations or subspecies within a species, species within a genus, or taxa at higher levels. Historically, generalized NoRs have routinely been drawn though rarely explicitly recognized as such. Such generalized NoRs can be used to make evolutionary inferences at higher taxonomic levels in a way analogous to how standard NoRs are used for microevolutionary inferences.

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"Nature and Nurture"

Cited by 23 publications

References 0 publications

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

ABO Blood Groups and Human Fertility

Generalized norms of reaction for ecological developmental biology

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