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. 2023 Aug 16;35(3):153-161.
doi: 10.1515/medgen-2023-2040. eCollection 2023 Sep.

The past and future of "sex genes"

Affiliations

The past and future of "sex genes"

Christoph Rehmann-Sutter et al. Med Genet. .

Abstract

Much later than the discovery of "sex chromosomes" and of "sex hormones", genetics started delivering detailed explanations of sex-determining developmental pathways. Despite increasing knowledge of biological processes, concepts and theories about sex development are never based on facts alone. There are inevitable entanglements of biological description and changing cultural assumptions and they play a key role in how sex genes are framed and interpreted in biological research. In this review article we first focus on the early 20th century biology that worked in a hormone-based paradigm. Genetic explanations emerged later, first on the basis of sex chromosomes; starting in the 1980s, on the basis of genes. We highlight orthodox views of female development, which saw the default pathway of human sex development. We will show how recent findings in biology challenge it. The article discusses the interactions of causal claims in science with cultural assumption about gender and outlines three influential strands of critical feminist philosophy of science: the critique of genetic determinism and genetic essentialism, of dualist assumptions, and of an androcentric bias in the conception of research strategies. In the final section we suggest key agenda points of future genetic research on sex determination.

Keywords: feminist feminist science studies; history of genetics; history of hormone research; sex determination; sex genes.

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Conflict of interest statement

Competing interests: Authors state no conflict of interest.

Figures

Figure 1:
Figure 1:
Eugen Steinach’s experimental feminisation of male guinea pigs (from [53]).
Figure 2:
Figure 2:
Human sex development from the indifferent gonad to sex differentiation is a concerted interplay of numerous genetic and hormonal factors. Shown are gene products known to be involved in human sex development that are mutated in individuals with DSD. Androgens (Testosterone and Dihydrotestosterone (DHT)) exert their role through the androgen receptor. The role of estrogens in female sex differentiation is poorly understood. Indifferent gonad with undifferentiated genitalia (left). Female (above) and male (below) gonadal determination and sex differentiation. (modified from [29]).
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