scholarly journals Is Synaesthesia an X-Linked Dominant Trait with Lethality in Males?

Perception ◽  
10.1068/p5250 ◽  
2005 ◽  
Vol 34 (5) ◽  
pp. 611-623 ◽  
Author(s):  
Jamie Ward ◽  
Julia Simner
Keyword(s):  
X Chromosome ◽  
Internal Consistency ◽  
Single Gene ◽  
Dominant Mode ◽  
Dominant Trait ◽  
Male Bias ◽  
Large Sample ◽  
Inheritance Patterns ◽  
Male Ratio ◽  
Mode Of Inheritance

In previous research the inheritance patterns of synaesthesia (eg experiencing colours from graphemes) has been studied and it was concluded that synaesthesia is most likely to be the outcome of a single gene passed on the X chromosome in a dominant fashion. In addition, it has been reported that the female – male ratio of synaesthetes is as high as 6: 1 and the families of synaesthetes contain more female than male members. This raises the possibility that the gene may be associated with lethality in males. In this study we replicate and extend previous research by investigating the female – male ratio and inheritance patterns in a large sample of synaesthetic families ( N = 85). We were able to verify the authenticity of grapheme – colour associates in at least one proband from each family using internal consistency. As before, our results show a female – male bias and are broadly consistent with an X-linked dominant mode of inheritance. However, there was no evidence of male lethality (eg synaesthetes are just as likely to give birth to sons as to daughters). Moreover, our female – male ratio of synaesthetes within families was 2: 1 —considerably lower than previous estimates. We speculate that men may be more reluctant to disclose synaesthesia than women (indeed, our female – male ratio based on self-referral was 3.7: 1). Finally, we discuss how the genotype may give rise to the phenotype in terms of changes in synaptogenesis or plasticity extending into childhood, to be subsequently shaped by the environment.

scholarly journals Inheritance Patterns of Coat Colouration and Horn Number in Jacob Sheep

2018 ◽  
Vol 3 (1) ◽  
pp. 363-367
Author(s):  
N.R. McEwan ◽  
O.A. Anjola
Keyword(s):  
Gene Locus ◽  
Single Gene ◽  
Coat Colour ◽  
The Body ◽  
The Other ◽  
Limiting Factors ◽  
Inheritance Patterns ◽  
Mode Of Inheritance

Abstract The allele for black coat colour is dominant relative to the allele for lilac in Jacob sheep and is affected by a single gene locus. The percentage of this colouration, as opposed to white fleece, across the body has a heritability value of 0.255. The mode of inheritance for horn number in these animals is less clear, with neither the trait for 2 horns, nor for 4 horns being totally dominant, based on crosses of 2 x 2-horned parents and 4 x 4-horned parents; although in these examples the majority of lambs had the same number of horns as their parents. However, when one parent had 2 horns and the other had 4 horns, the gender of the 4-horned parent appeared to influence the frequency of 4-horned offspring; 77% of lambs born to a 4-horned dam being 4-horned, but only 50% when the 4-horned parent was the sire. These data suggest evidence for sex-limiting factors being involved in determining the number of horns in this breed.

scholarly journals Steroid Resistant Nephrotic Syndrome-Genetic Consideration

PRILOZI ◽  
2015 ◽  
Vol 36 (3) ◽  
pp. 5-12
Author(s):  
Velibor Tasic ◽  
Zoran Gucev ◽  
Momir Polenakovic
Keyword(s):  
Nephrotic Syndrome ◽  
Coenzyme Q10 ◽  
Single Gene ◽  
Gene Mutations ◽  
Diagnostic Techniques ◽  
Dominant Mode ◽  
Kidney Graft ◽  
Steroid Resistant ◽  
Recessive Mutations ◽  
Mode Of Inheritance

Abstract Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. It is separated to steroid-sensitive or steroid-resistant (SRNS) forms in respect to the response to intensive steroid therapy. SRNS usually progresses to end-stage renal failure. According to the North American Pediatric Renal Trials and Collaborative Studies SRNS constitutes the second most frequent cause of ESRD in the first two decades of life. Unfortunately, there is no curative treatment for majority of patients. Majority of the SRNS patients have the histologic picture of focal segmental glomerulosclerosis. Interestingly, the risk of recurrence in the kidney graft in patients with hereditary SRNS is lower than in those who do not have genetic background. The etiology and pathogenesis of SRSN has remained enigma for decades. The discovery of 39 dominant or recessive SRNS genes enabled better understanding of the function of the glomerular podocytes and slit membrane. Hildebrandt′s group has shown that 85% of the SRNS cases with onset by 3 months of age and 66% with onset by 1 year of age can be explained by recessive mutations in one of four genes only (NPHS1, NPHS2, LAMB2, or WT1). The same group used modern diagnostic techniques such as the next generation sequencing and tested a large international cohort of SRNS patients (n = 1783 families). The diagnostic panel included 21 genes with a recessive mode of inheritance and 6 genes with a dominant mode of inheritance. Single-gene cause was detected in 29.5% (526 of 1783) of the families with SRNS that manifested before 25 years of age. The identification of causative single-gene mutations may have important therapeutic consequences in some cases. This is very important for patients who carry mutations in a gene of coenzyme Q10 biosynthesis (COQ2, COQ6, ADCK4, or PDSS2). In these patients the treatment with coenzyme Q10 may be indicated. Also, patients with recessive mutations in PLCE1 may respond fully to the treatment with steroids or cyclosporine A. The patients with CUBN may benefit the treatment with vitamin B12. The detection of causative mutations may also be very important for familial genetic counseling and for prenatal diagnosis.

scholarly journals AN INHERITED X-LINKED SERUM SYSTEM IN MAN

1966 ◽  
Vol 123 (2) ◽  
pp. 379-397 ◽  
Author(s):  
Kåre Berg ◽  
Alexander G. Bearn
Keyword(s):  
X Chromosome ◽  
Dominant Mode ◽  
Specific Antiserum ◽  
Α2 Macroglobulin ◽  
Mode Of Inheritance ◽  
Serum System

The detection of an inherited X-linked serum system in man, disclosed by a heteroantisenim made specific by absorption, is described. These studies suggest that the antigen, demonstrated by the specific antiserum, resides in the α2-macroglobulin fraction of serum. The system has been named the Xm system, where X refers to the localization of the gene on the X chromosome, and the m indicates that the antigen is part of the α2-macroglobulin fraction. The distribution of phenotypes in unrelated individuals from 4 populations, as well as studies performed in families are consistent with an X-linked dominant mode of inheritance. One Xm(a-) daughter was found in a family where the father was Xm(a+). This finding is discussed with particular reference to the possible influence of sex and age on the development of the phenotype. This common X-linked marker is likely to prove useful in mapping the human X chromosome.

scholarly journals Genotypic resistance to brown heart incidence in swede parent lines and F1 hybrids and the influence of applied boron

2013 ◽  
Vol 153 (2) ◽  
pp. 195-204 ◽  
Author(s):  
F. FADHEL ◽  
A. J. JELLINGS ◽  
S. KENNEDY ◽  
M. P. FULLER
Keyword(s):  
Brassica Napus ◽  
Single Gene ◽  
Dry Weight ◽  
Significant Negative Correlation ◽  
F1 Hybrids ◽  
Dominant Trait ◽  
Genotypic Resistance ◽  
Resistant Varieties ◽  
Effect Of Treatment ◽  
The Uk

SUMMARYBreeding trials for swede (Brassica napus var. napobrassica) in 2000–2010 showed that 0·85 of the incidence of brown heart (BH) in the trials was associated with genotypes that are progeny of Ag31, Or13 and Me77c. In order to investigate this and the effect of treatment with boron (B), established varieties and improved parent lines carrying male sterility (ms), and their F1 hybrids (test hybrids), were grown in a field trial in the UK in 2011 and subjected to four B treatments (0·00, 1·35, 1·80 and 2·70 kg B/ha). The results confirmed that BH incidence and severity was affected by genotype but could be ameliorated by B application. Genotype Ag31 was very susceptible while Or13 and Me77c were of intermediate susceptibility and the hybrids between susceptible parents were also sensitive. Genotypes Gr19 and Ly01 were highly resistant even in the absence of B application. Hybrids between resistant and susceptible lines were highly resistant. The use of ms had no influence on BH. Resistance to BH was a dominant trait: homozygous dominant (BHBH) or heterozygous (BHbh) genotypes confer this trait, while susceptibility is recessive (bhbh). Some quantitative variation existed, suggesting that resistance was not a single gene effect. There was a significant negative correlation (r=−0·632) between root B content and the severity of BH in susceptible genotypes. Severe BH was associated with 12–21·5 μg B/g of root dry weight at zero B applied. Moderate discolouration was associated with 19·5–24·8 μg B/g recorded at moderate B applied and only Ag31 showed BH at 2·70 kg B/ha. Resistant varieties had root contents of 23 μg B/g or more while susceptible varieties required a minimum of 31 μg B/g to offset BH.

scholarly journals Characterization of histone inheritance patterns in the Drosophila female germline

2020 ◽  
Author(s):  
Elizabeth W. Kahney ◽  
Lydia Sohn ◽  
Kayla Viets-Layng ◽  
Robert Johnston ◽  
Xin Chen
Keyword(s):  
Stem Cell ◽  
Cell Fate ◽  
Single Gene ◽  
Asymmetric Division ◽  
Germline Stem Cell ◽  
Inheritance Patterns ◽  
Daughter Cells ◽  
Dividing Cells ◽  
Female Germline

ABSTRACTStem cells have the unique ability to undergo asymmetric division which produces two daughter cells that are genetically identical, but commit to different cell fates. The loss of this balanced asymmetric outcome can lead to many diseases, including cancer and tissue dystrophy. Understanding this tightly regulated process is crucial in developing methods to treat these abnormalities. Here, we report that produced from a Drosophila female germline stem cell asymmetric division, the two daughter cells differentially inherit histones at key genes related to either maintaining the stem cell state or promoting differentiation, but not at constitutively active or silenced genes. We combined histone labeling with DNA Oligopaints to distinguish old versus new histone distribution and visualize their inheritance patterns at single-gene resolution in asymmetrically dividing cells in vivo. This strategy can be widely applied to other biological contexts involving cell fate establishment during development or tissue homeostasis in multicellular organisms.

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

Fragile X: A Family of Disorders

2010 ◽  
Author(s):  
Ann M. Mastergeorge ◽  
Jacky Au
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
X Chromosome ◽  
Culture Media ◽  
Fragile Site ◽  
Fragile X ◽  
Single Gene ◽  
Repeat Sequence ◽  
Full Mutation ◽  
Tissue Culture Media

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability known, and it is the most common single gene disorder associated with autism (Belmonte and Bourgeron 2006; Reddy 2005). It is caused by the lack or deficiency of the FMR1 protein, FMRP (Loesch et al. 2004b). The typical physical features of FXS include prominent ears, hyperextensible finger joints, flat feet, soft skin, and in adolescence and adulthood large testicles (macroorchidism) and a long face (Hagerman 2002b). The behavioral features include poor eye contact, hyperarousal to stimuli, anxiety, hyperactivity, attention deficit, impulsivity, hand stereotypies (such as hand biting and hand flapping), and social deficits including autism and autism spectrum disorder (ASD) (Budimirovic et al. 2006; Clifford et al. 2007; Hall et al. 2008b; Hatton et al. 2006b; Sullivan et al. 2007b). Fragile-X syndrome was first reported by Lubs (1969) in two brothers who had intellectual disability and the appearance of a marker X chromosome, which is a fragile site on their X chromosome. It was later detected that this fragile site on the X chromosome only occurred when the chromosomes were studied in a folate-deficient tissue culture media (Sutherland 1977). Therefore cytogenetic studies were utilized to document cases of FXS throughout the 1980s until the Fragile X Mental Retardation 1 gene (FMR1) was discovered in 1991 (Verkerk et al. 1991). The FMR1 gene was found to have a trinucleotide (CGG) repeat sequence at the 5’ untranslated region, with the normal range later determined to be up to 44 repeats, a gray zone of 45–54 repeats, a premutation of 55–200 repeats, and a full mutation range of more than 200 repeats (Maddalena et al. 2001). Those individuals with the full mutation have a deficit or absence of the FMR1 protein (FMRP) that causes the physical, behavioral, and cognitive features of FXS (Loesch et al. 2004b). Females with the full mutation have another X chromosome that is producing FMRP, depending on the activation ratio (AR) or the percentage of cells that have the normal X chromosome as the active X chromosome.

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