Sexual Selection, Timing and an X–Y Homologous Gene: Did Homo Sapiens Speciate on the Y Chromosome?

2004 ◽  
Author(s):  
Tim J. Crow
Keyword(s):  
Sexual Selection ◽  
Sex Chromosome ◽  
Homo Sapiens ◽  
Single Gene ◽  
Critical Role ◽  
Hominid Evolution ◽  
Homologous Gene ◽  
Chromosomal Change ◽  
Species Specific ◽  
Sex Chromosome Aneuploidies

This chapter provides a theory of the speciation of modern Homo sapiens, that a single gene played a critical role in the transition from a precursor species. The theory is founded upon the following: firstly, the premise that hemispheric asymmetry is the defining feature of the human brain and the only plausible correlate of language; secondly, an argument for a specific candidate region (the Xq21.3/Yp11.2 region of homology) based upon the reciprocal deficits associated with the sex chromosome aneuploidies, and the course of chromosomal change in hominid evolution; and thirdly, a particular evolutionary mechanism (sexual selection acting on an X-Y-linked gene) to account for species-specific modification of what initially was a saltational change. These postulates relate to the case of modern Homo sapiens. On the basis of the recent literature, the discussion argues that the third premise has general significance as a mechanism of speciation.

Laterality and Human Speciation

2004 ◽  
Author(s):  
Michael C. Corballis
Keyword(s):  
Gene Mutation ◽  
Left Hemisphere ◽  
Homo Sapiens ◽  
Single Gene ◽  
Cerebral Dominance ◽  
Hominid Evolution ◽  
Cerebral Asymmetry ◽  
Single Gene Mutation ◽  
Cerebral Asymmetries ◽  
Speciation Event

This chapter describes the relevance of cerebral asymmetry. Although cerebral asymmetries abound in non-human animals, there are still reasons to suppose that there may have been a single-gene mutation producing a ‘dextral’ (D) allele, which created a strong bias toward right-handedness and left-cerebral dominance for language at some point in hominid evolution. The alternative ‘chance’ (C) allele is presumed directionally neutral, although there may be other influences producing weak population manual and cerebral asymmetries in the absence of the D allele. The discussion argues that language evolved from manual gestures, and the D allele may have served to guarantee manual and vocal control in the same (left) hemisphere in the majority of humans. The ‘speciation event’ that distinguished Homo sapiens from other large-brained hominids might be as witch from a predominantly gestural to a vocal form of language.

Darwinian Evolutionary Theory

2018 ◽  
Author(s):  
Michael Ruse
Keyword(s):  
Sexual Selection ◽  
Natural Selection ◽  
Middle Class ◽  
Evolutionary Theory ◽  
Scientific Community ◽  
Homo Sapiens ◽  
Origin Of Species ◽  
Theory Of Evolution ◽  
Descent Of Man

Charles Robert Darwin, the English naturalist, published On the Origin of Species in 1859 and the follow-up work The Descent of Man in 1871. In these works, he argued for his theory of evolution through natural selection, applying it to all organisms, living and dead, including our own species, Homo sapiens. Although controversial from the start, Darwin’s thinking was deeply embedded in the culture of his day, that of a middle-class Englishman. Evolution as such was an immediate success in scientific circles, but although the mechanism of selection had supporters in the scientific community (especially among those working with fast-breeding organisms), its real success was in the popular domain. Natural selection, and particularly the side mechanism of sexual selection, were known to all and popular themes in fiction and elsewhere.

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

2018 ◽  
Vol 38 (8) ◽  
pp. 617-619
Author(s):  
Katelynn G. Sagaser ◽  
Blair Stevens ◽  
Jessica Davis ◽  
Hope Northrup ◽  
Aarti Ramdaney
Keyword(s):  
Sex Chromosome ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

Epigenetics and Applied Anthropology

2021 ◽  
Author(s):  
Charles H. Klein
Keyword(s):  
Social Inequalities ◽  
Homo Sapiens ◽  
Single Gene ◽  
Molecular Genetic ◽  
Healthcare Providers ◽  
Basic Research ◽  
Sufficient Information ◽  
Theoretical Frameworks ◽  
Noncoding Dna ◽  
Wide Range

Since Francis Crick and James D. Watson’s discovery of DNA in 1953, researchers, policymakers, and the general public have sought to understand the ways in which genetics shapes human lives. A milestone in these efforts was the completion of the Human Genome Project’s (HGP) sequencing of Homo sapiens’ nearly three million base pairs in 2003. Yet, despite the excitement surrounding the HGP and the discovery of the structural genetic underpinnings of several debilitating diseases, the vast majority of human health outcomes have not been linked to a single gene. Moreover, even when genes have been associated with particular diseases (e.g., breast and colon cancer), it is not well understood why certain genetically predisposed individuals become ill and others do not. Nor has the HGP’s map provided sufficient information to understand the actual functioning of the human genetic code, including the role of noncoding DNA (“junk DNA”) in regulating molecular genetic processes. In response, a growing number of scientists have shifted their attention from structural genetics to epigenetics, the study of how genes express themselves in particular situations and environments. Anthropologists play roles in these applications of epigenetics to real-world settings. Their new theoretical frameworks unsettle the nature-versus-nurture binary and support biocultural anthropological research demonstrating how race becomes biology and embodies social inequalities and health disparities across generations. Ethnographically grounded case studies further highlight the diverse epigenetic logics held by healthcare providers, researchers, and patient communities and how these translations of scientific knowledge shape medical practice and basic research. The growing field of environmental epigenetics also offers a wide range of options for students and practitioners interested in applying the anthropological toolkit in epigenetics-related work.

The Continuum of Psychosis and Its Genetic Origins

1990 ◽  
Vol 156 (6) ◽  
pp. 788-797 ◽  
Author(s):  
T. J. Crow
Keyword(s):  
Sex Chromosome ◽  
Homo Sapiens ◽  
Polymorphic Marker ◽  
Cerebral Dominance ◽  
Homo Erectus ◽  
Evolutionary Development ◽  
Pseudoautosomal Region ◽  
Sibling Pairs ◽  
Homo Habilis ◽  
Y Chromosomes

Attempts to draw a line of genetic demarcation between schizophrenic and affective illnesses have failed. It must be assumed that these diseases are genetically related. A post-mortem study has demonstrated that enlargement of the temporal horn of the lateral ventricle in schizophrenia but not in Alzheimer-type dementia is selective to the left side of the brain. This suggests that the gene for psychosis is the ‘cerebral dominance gene‘, the factor that determines the asymmetrical development of the human brain. That the psychosis gene is located in the pseudoautosomal region of the sex chromosomes is consistent with observations that sibling pairs with schizophrenia are more often than would be expected of the same sex and share alleles of a polymorphic marker at the short-arm telomeres of the X and Y chromosomes above chance expectation. That the cerebral dominance gene also is pseudoautosomal is suggested by the pattern of verbal and performance deficits associated with sex-chromosome aneuploidies. The psychoses may thus represent aberrations of a late evolutionary development underlying the recent and rapid increase in brain weight in the transition fromAustralopithecusthroughHomo habilisandHomo erectustoHomo sapiens.

Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals

2018 ◽  
Vol 58 (3) ◽  
pp. 336-342
Author(s):  
Carolina Jaramillo ◽  
Christina Nyquist ◽  
Kirsten A. Riggan ◽  
Jason Egginton ◽  
Sean Phelan ◽  
...  
Keyword(s):  
Medical Care ◽  
Sex Chromosome ◽  
Genetic Diagnosis ◽  
Accurate Information ◽  
Misleading Information ◽  
Telephone Interviews ◽  
Care And Support ◽  
Follow Up Care ◽  
Sex Chromosome Aneuploidies

Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.

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