Fertile females of the mole Talpa occidentalis are phenotypic intersexes with ovotestes

Development ◽  
1993 ◽  
Vol 118 (4) ◽  
pp. 1303-1311 ◽  
Author(s):  
R. Jimenez ◽  
M. Burgos ◽  
A. Sanchez ◽  
A.H. Sinclair ◽  
F.J. Alarcon ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Reversal ◽  
Chromosome Gene ◽  
Different Populations ◽  
Testis Determining Gene

We investigated the origin of XX sex reversal in the insectivorous mole Talpa occidentalis. Cytogenetic, histological and hormonal studies indicate that all XX individuals analyzed from two different populations are true hermaphrodites, with ovotestes. This suggests that XX sex reversal may be the norm in this species. The intersexes are functional fertile females and the trait is transmitted and maintained in the population. Intersexes lack the Y chromosome gene SRY (sex determining region Y gene), shown to be the testis determining gene. These results suggest that XX intersex moles may have arisen from a mutation of a gene located downstream from SRY/TDY in the testis determining pathway.

scholarly journals Efficient TALEN-mediated gene knockin at the bovine Y chromosome and generation of a sex-reversal bovine

2021 ◽  
Author(s):  
Ming Wang ◽  
ZhaoLin Sun ◽  
Fangrong Ding ◽  
Haiping Wang ◽  
Ling Li ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Nuclear Transfer ◽  
Sex Reversal ◽  
Practical Application ◽  
Transcription Activator ◽  
New Methods ◽  
Fetal Fibroblasts ◽  
Male Phenotype ◽  
Solid Foundation ◽  
First Time

AbstractFunctional elucidation of bovine Y-chromosome genes requires available genome editing technologies. Meanwhile, it has yet to be proven whether the bovine Sry gene is the main or single factor involved in the development of the male phenotype in bovine. Here, we efficiently knocked out four Y-linked genes (Sry, ZFY, DDX3Y, and EIF2S3Y) in bovine fetal fibroblasts (BFFs) with transcription activator-like effector nucleases (TALENs) individually. Furthermore, we used TALEN-mediated gene knockin at the Sry gene and generated a sex-reversal bovine by somatic cell nuclear transfer (SCNT). The resulting bovine had only one ovary and was sterile. We demonstrate, for the first time, that the Sry gene is an important sex-determining gene in bovine. Our method lays a solid foundation for detecting the biology of the bovine Y chromosome, as it may provide an alternative biological model system for the study of mammalian sex determination, and new methods for the practical application in agricultural, especially for sex predetermination.

scholarly journals Defective Calmodulin-Mediated Nuclear Transport of the Sex-Determining Region of the Y Chromosome (SRY) in XY Sex Reversal

2005 ◽  
Vol 19 (7) ◽  
pp. 1884-1892 ◽  
Author(s):  
Helena Sim ◽  
Kieran Rimmer ◽  
Sabine Kelly ◽  
Louisa M. Ludbrook ◽  
Andrew H. A. Clayton ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Nuclear Import ◽  
High Mobility ◽  
Sex Reversal ◽  
High Mobility Group ◽  
Missense Mutations ◽  
Nuclear Localization Signals ◽  
Xy Sex Reversal

Abstract The sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, as mutations in SRY can cause XY sex reversal. Although some SRY missense mutations affect DNA binding and bending activities, it is unclear how others contribute to disease. The high mobility group domain of SRY has two nuclear localization signals (NLS). Sex-reversing mutations in the NLSs affect nuclear import in some patients, associated with defective importin-β binding to the C-terminal NLS (c-NLS), whereas in others, importin-β recognition is normal, suggesting the existence of an importin-β-independent nuclear import pathway. The SRY N-terminal NLS (n-NLS) binds calmodulin (CaM) in vitro, and here we show that this protein interaction is reduced in vivo by calmidazolium, a CaM antagonist. In calmidazolium-treated cells, the dramatic reduction in nuclear entry of SRY and an SRY-c-NLS mutant was not observed for two SRY-n-NLS mutants. Fluorescence spectroscopy studies reveal an unusual conformation of SRY.CaM complexes formed by the two n-NLS mutants. Thus, CaM may be involved directly in SRY nuclear import during gonadal development, and disruption of SRY.CaM recognition could underlie XY sex reversal. Given that the CaM-binding region of SRY is well-conserved among high mobility group box proteins, CaM-dependent nuclear import may underlie additional disease states.

Roles of Anti-Müllerian hormone (Amh) and its duplicates in sex determination and germ cell proliferation of Nile tilapia

Genetics ◽  
2021 ◽  
Author(s):  
Xingyong Liu ◽  
Shengfei Dai ◽  
Jiahong Wu ◽  
Xueyan Wei ◽  
Xin Zhou ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Sex Determination ◽  
Germ Cell ◽  
Y Chromosome ◽  
X Chromosome ◽  
Nile Tilapia ◽  
Critical Period ◽  
Sex Reversal ◽  
Homozygous Mutation ◽  
Germ Cell Proliferation

Abstract Duplicates of amh are crucial for fish sex determination and differentiation. In Nile tilapia, unlike in other teleosts, amh is located on X chromosome. The Y chromosome amh (amh△-y) is mutated with 5 bp insertion and 233 bp deletion in the coding sequence, and tandem duplicate of amh on Y chromosome (amhy) has been identified as the sex determiner. However, the expression of amh, amh△-y and amhy, their roles in germ cell proliferation and the molecular mechanism of how amhy determines sex is still unclear. In this study, expression and functions of each duplicate were analyzed. Sex reversal occurred only when amhy was mutated as revealed by single, double and triple mutation of the three duplicates in XY fish. Homozygous mutation of amhy in YY fish also resulted in sex reversal. Earlier and higher expression of amhy/Amhy was observed in XY gonads compared with amh/Amh during sex determination. Amhy could inhibit the transcription of cyp19a1a through Amhr2/Smads signaling. Loss of cyp19a1a rescued the sex reversal phenotype in XY fish with amhy mutation. Interestingly, mutation of both amh and amhy in XY fish or homozygous mutation of amhy in YY fish resulted in infertile females with significantly increased germ cell proliferation. Taken together, these results indicated that up-regulation of amhy during the critical period of sex determination makes it the sex-determining gene, and it functions through repressing cyp19a1a expression via Amhr2/Smads signaling pathway. Amh retained its function in controlling germ cell proliferation as reported in other teleosts, while amh△-y was nonfunctionalized.

scholarly journals Forensic application of Y-chromosomal STR analysis in Lithuanian population

Biologija ◽  
2015 ◽  
Vol 61 (2) ◽  
Author(s):  
Giedrė Ruzgaitė ◽  
Marija Čaplinskienė ◽  
Rima Baranovienė ◽  
Jūratė Jankauskienė ◽  
Jolanta Kukienė ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Gene Pool ◽  
Haplotype Diversity ◽  
Haplotype Frequency ◽  
Reference Database ◽  
Match Probability ◽  
Str Analysis ◽  
Str Markers ◽  
Forensic Casework ◽  
Chromosome Gene

This paper presents a comprehensive Y-chromosomal STR haplotype analysis in the Lithuanian population in order to evaluate Lithuanians’ Y chromosome diversity, to infer genetic relations between Lithuanian and other European neighbouring populations and to introduce population reference data for generation of reliable Y-STR haplotype frequency estimates to be used in the quantitative assessment of Y-STR haplotype match in the forensic casework. Data were collected from the peripheral blood samples of 194 unrelated males throughout various regions of Lithuania. The amplification of 17 Y-STRs was carried out in one multiplex PCR using an  AmpFlSTR® Yfiler<sup>TM</sup> PCR Amplication Kit according to the supplier’s protocol. The results indicated that the Y-chromosomal haplotype diversity in the Lithuanian population rises as the  number of the  analyzed Y-STRs is increased. However, all additional Y-STR loci are not hypervariable and only their whole makes a large diversity of Y-STR haplotypes in Lithuanian males. The  analysis of molecular variance revealed low but significant interpopulation differences except the pair of Lithuanian and Latvian populations. The  phylogenetic analysis showed that the  clustered Y chromosome gene pool of Lithuanians and Latvians has a closer phylogenetic relation to Russian and Estonian populations and is less genetically related to other neighbouring populations of Belarus and Poland. Yet Y-STRs alleles and haplotypes differentiate effectively inside the  Lithuanian population and between Lithuanians and its geographical neighbours excluding the  Latvian population. Comparison of the Y-STR data suggests that Lithuanian and Latvian populations are closely related not only by geography and language but also by the Y chromosome gene pool represented by forensic Y-STR markers. Consequently, more forensic Y-STR markers should be included in the Y-STR haplotype in order to achieve a resolution between the  Y chromosomes of Lithuanian and Latvian males. Lithuanian Y-STR haplotype data were submitted to the 34th release of the Y-STR Haplotype Reference Database 3.0 for match probability calculations in the forensic casework.

Inhibition of Human Y Chromosome Gene, SRY, Promotes Naïve State of Human Pluripotent Stem Cells

2019 ◽  
Vol 18 (12) ◽  
pp. 4254-4261 ◽  
Author(s):  
Sara Taleahmad ◽  
Mehdi Alikhani ◽  
Sepideh Mollamohammadi ◽  
Meisam Yousefi ◽  
Adeleh Taei ◽  
...  
Keyword(s):  
Stem Cells ◽  
Y Chromosome ◽  
Pluripotent Stem Cells ◽  
Human Pluripotent Stem Cells ◽  
Chromosome Gene ◽  
Human Y Chromosome

Role of mammalian Y chromosome in sex determination

1988 ◽  
Vol 322 (1208) ◽  
pp. 63-72 ◽  
Keyword(s):  
Cell Differentiation ◽  
Sex Determination ◽  
Y Chromosome ◽  
Sertoli Cell ◽  
Sertoli Cells ◽  
Sex Reversal ◽  
Testicular Development ◽  
Chimeric Mouse ◽  
Embryonic Gonad

It has long been assumed that the mammalian Y chromosome either encodes, or controls the production of, a diffusible testis-determining molecule, exposure of the embryonic gonad to this molecule being all that is required to divert it along the testicular pathway. My recent finding that Sertoli cells in XX ↔ XY chimeric mouse testes are exclusively XY has led me to propose a new model in which the Y acts cell-autonomously to bring about Sertoli-cell differentiation. I have suggested that all other aspects of foetal testicular development are triggered by the Sertoli cells without further Y-chromosome involvement. This model thus equates mammalian sex determination with Sertoli-cell determination. Examples of natural and experimentally induced sex reversal are discussed in the context of this model.

Mapping the human Y chromosome

1988 ◽  
Vol 322 (1208) ◽  
pp. 125-131 ◽  
Keyword(s):  
Y Chromosome ◽  
Dna Sequences ◽  
Physical Map ◽  
Sex Reversal ◽  
Chromosomal Anomalies ◽  
Deletion Mapping ◽  
Molecular Analyses ◽  
Large Size ◽  
Definition Of ◽  
Human Y Chromosome

This paper reviews past and present trends in mapping the human Y chromosome. So far, mapping has essentially used a combination of cytogenetic and molecular analyses of Y-chromosomal anomalies and sex reversal syndromes. This deletion mapping culminated recently in the isolation of the putative sex-determining locus TDF . With the availability of new separation and cloning techniques suited for large size fragments (over 100 kilobases), the next step will consist rather in the establishment of a physical map of fragments of known physical sizes. This may allow the definition of several variants of the human Y chromosome differing by the order or location of DNA sequences along the molecule.

Similarities and distinctions in Y chromosome gene pool of Western Slavs

2010 ◽  
Vol 142 (4) ◽  
pp. 540-548 ◽  
Author(s):  
Marcin Woźniak ◽  
Boris Malyarchuk ◽  
Miroslava Derenko ◽  
Tomas Vanecek ◽  
Jan Lazur ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Gene Pool ◽  
Chromosome Gene
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