Sex reversal in C57BL/6J-Y POS mice corrected by a Sry transgene

1995 ◽  
Vol 350 (1333) ◽  
pp. 263-269 ◽  
Keyword(s):  
Inbred Strain ◽  
Y Chromosome ◽  
Ovarian Tissue ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Sex Reversal ◽  
Dna Polymorphisms ◽  
Mus Domesticus ◽  
Y Chromosomes ◽  
Strain Background

C57BL/6J mice carrying a Mus domesticus poschiavinus Y chromosome (Y POS ) develop as females with ovarian tissue or as hermaphrodites with ovarian and testicular tissue. We tested the hypothesis that the Y-linked component of this inherited sex reversal is caused by the M. d. poschiavinus Y-linked testis determining gene (symbolized Tdy or Sry ) by examining gonadal development in C57BL/6J XY POS mice carrying a M. musculus allele of Sry as a transgene. We found that in the presence of the transgene, XY POS mice developed exclusively testicular tissue. This result indicates that the Sry allele carried on the Y PDS chromosome is responsible for development of ovarian tissue in the G57BL/6J inbred strain background. We discuss this finding in light of DNA polymorphisms present in Sry alleles carried by various M. domesticus and M.musculus Y chromosomes. In addition, we present a hypothesis concerning the timing of expression of the testicular and ovarian determining genes in the developing fetal gonad based on the organization of ovarian and testicular tissue in ovotestes.

scholarly journals Inheritance of T-associated sex reversal in mice

1990 ◽  
Vol 56 (2-3) ◽  
pp. 185-191 ◽  
Author(s):  
Linda L. Washburn ◽  
Barbara K. Lee ◽  
Eva M. Eicher
Keyword(s):  
Sex Determination ◽  
Inbred Strain ◽  
Y Chromosome ◽  
Ovarian Tissue ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Sex Reversal ◽  
Testicular Development ◽  
Additional Locus ◽  
Strain Background

SummaryWe previously identified a primary sex-determining locus,Tas, on mouse Chr 17 that causes ovarian tissue development in C57BL/6JThp/ + andTorl/ + individuals if the AKR/J Y chromosome is present. We hypothesized thatTasis located within the region of Chr 17 deleted byThpandTorland that C57BL/6J carries a diagnosticTasallele, based on the observation that ovarian tissue develops in XY mice whenThpis on a C57BL/6J inbred strain background, whereas normal testicular development occurs whenThpis on a C3H/HeSnJ inbred strain background. To test this hypothesis, we mated (C57BL/6J × C3H/HeSnJ)F1 females to C57BL/6JThp/ + hermaphrodites. As expected, half of the XYThp/+ offspring developed ovarian and testicular tissue while half developed exclusively testicular tissue. Unexpectedly, the inheritance of selected Chr 17 molecular loci was independent of gonadal development, as half of the male and hermaphroditic offspring inherited C3H/HeSnJ-derived Chr 17 loci and half inherited C57BL/6J-derived Chr 17 loci. We conclude that for ovarian tissue to develop in an XYThp/ + or XYTort/ + individual (1)Tasmust be present in a hemizygous state, which is accomplished by heterozygosity for theThporTortdeletions; (2) the AKR/J-derived Y chromosome must be present; and (3) an additional locus involved in primary sex determination must be present in a homozygous C57BL/6J state. This newly identified gene may be one of the previously defined loci,tda-1ortda-2.

scholarly journals Normal testis determination in the mouse depends on genetic interaction of a locus on chromosome 17 and the Y chromosome.

Genetics ◽  
1989 ◽  
Vol 123 (1) ◽  
pp. 173-179 ◽  
Author(s):  
L L Washburn ◽  
E M Eicher
Keyword(s):  
Inbred Strain ◽  
Y Chromosome ◽  
Genetic Interaction ◽  
Ovarian Tissue ◽  
Gonad Development ◽  
Sex Reversal ◽  
Chromosome 17 ◽  
Testicular Development ◽  
Normal Testis ◽  
Testis Determination

Abstract We previously described a locus on chromosome (Chr) 17 of the mouse that is critical for normal testis development. This locus was designated "T-associated sex reversal" (Tas) because it segregated with the dominant brachyury allele hairpin tail (Thp) and caused gonads of C57BL/6J XY, Thp/+ individuals to develop as ovaries or ovotestes rather than as testes. To clarify the inheritance of Tas, we investigated the effects of T-Orleans (TOrl), another brachyury mutation, on gonad development. We found that gonads of C57BL/6J XY, Thp/+ and TOrl/+ mice develop ovarian tissue if the Y chromosome is derived from the AKR/J inbred strain, whereas normal testicular development occurs in the presence of a Y chromosome derived from the C57BL/6J inbred strain. From these observations we conclude that: (1) Tas is located in a region on Chr 17 common to the deletions associated with Thp, and TOrl, and (2) the Y-linked testis determining gene, Tdy, carried by the AKR/J inbred strain differs from that of the C57BL/6J inbred strain. We suggest that in mammals Tdy is not the sole testis determinant because autosomal loci must be genetically compatible with Tdy for normal testicular development.

scholarly journals Aspects of fishing and reproduction of the black grouper Mycteroperca bonaci (Poey, 1860) (Serranidae: Epinephelinae) in the Northeastern Brazil

2004 ◽  
Vol 2 (1) ◽  
pp. 19-30 ◽  
Author(s):  
Simone Ferreira Teixeira ◽  
Beatrice Padovani Ferreira ◽  
Isaíras Pereira Padovan
Keyword(s):  
Size Structure ◽  
Ovarian Tissue ◽  
Gonadosomatic Index ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Northeastern Brazil ◽  
Multiple Spawner ◽  
Mycteroperca Bonaci ◽  
Fisheries Statistics ◽  
Feeding Aggregation

The reproductive biology of the black grouper Mycteroperca bonaci, caught by artisanal fishermen using hook and line or compressor - assisted spear fishing, from the Northeastern shelf and oceanic banks of Brazil, was studied between August 1996 and April 1998. The sexual pattern, gonadal development, the spawning mode and seasonality were investigated. The gonadal stages indicated that this species is a protogynous hermaphrodite and that transition from female to male occurs through simultaneous re-absorption of ovarian tissue and proliferation of testicular tissue in the gonads. The specie is a multiple spawner and frequency analysis of gonadal stages and gonadosomatic index suggest that the spawning season occurs between April and September. Considerations about the fisheries, related to size structure of fishes caught, were based on length frequency distribution. The phenomenon of "correção" was described based on ethnobiology studies and informations from the Northeast Fisheries Statistics Bulletin of the Brazilian Environmental Institute (IBAMA). The phenomenon of the "correção" undergone by Mycteroperca bonaci seems to be a Southward chain reaction (of the State of Ceará to Bahia) and is a feeding aggregation.

Assays of testis development in the mouse distinguish three classes of domesticus-type Y chromosome

Genome ◽  
1988 ◽  
Vol 30 (6) ◽  
pp. 870-878 ◽  
Author(s):  
Fred G. Biddle ◽  
Yutaka Nishioka
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
House Mouse ◽  
Mus Musculus ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Laboratory Strain ◽  
Sex Reversal ◽  
Differential Interaction ◽  
Y Chromosomes

The Y chromosome of Mus musculus poschiavinus interacts with the autosomal recessive gene tda-1b of the C57BL/6J laboratory strain of the house mouse to cause complete or partial sex reversal. Ovaries or ovotestes develop in a substantial proportion of the XY fetuses. Several different Y-specific DNA probes distinguish two major types of Y chromosome in the house mouse and they are represented by M. m. domesticus and M. m. musculus. The poschiavinus Y chromosome appears identical to the domesticus Y. The developmental distribution of the gonad types was examined in the first backcross or N2 generation of fetuses in C57BL/6J with six different domesticus-type Y chromosomes and, as controls, three different musculus-type Y chromosomes. Gonadal hermaphrodites were found with three of the six domesticus-type Y chromosomes. Both overall frequency and phenotypic distribution of types of gonadal hermaphrodites identify three classes of domesticus-type Y chromosome by their differential interaction with the C57BL/6J genetic background.Key words: mouse, Y chromosomes, gonadal hermaphrodites, primary sex determination.

A DNA polymorphism from five inbred strains of the mouse identifies a functional class of domesticus-type Y chromosome that produces the same phenotypic distribution of gonadal hermaphrodites

Genome ◽  
1991 ◽  
Vol 34 (1) ◽  
pp. 96-104 ◽  
Author(s):  
Fred G. Biddle ◽  
Brenda A. Eales ◽  
Yutaka Nishioka
Keyword(s):  
Inbred Strain ◽  
Y Chromosome ◽  
Dna Polymorphism ◽  
Low Frequency ◽  
Inbred Strains ◽  
Functional Class ◽  
Low Frequencies ◽  
Testis Differentiation ◽  
Y Chromosomes ◽  
Functional Classes

The wild-derived CLA inbred strain of the house mouse contains a domesticus-type Y chromosome that lacks a 2.3-kb TaqI band with fragment 1 of the AC11 probe. The CLA Y chromosome also causes a low frequency of XY gonadal hermaphrodites when backcrossed to the C57BL/6J strain (F.G. Biddle and Y. Nishioka. 1988. Genome, 30: 870–878). A similar domesticus-type Y chromosome, lacking the 2.3-kb TaqI band has now been found in the four historical inbred strains AKR/J, MA/MyJ, PL/J, and RF/J. When backcrossed to C57BL/6J, these four Y chromosomes cause low frequencies of gonadal hermaphrodites similar to the CLA Y and phenotypic distributions of types of gonad are indistinguishable from that with the CLA Y. The absence of the 2.3-kb TaqI band appears to be a polymorphism among domesticus-type Y chromosomes that identifies one of the three functional classes that, so far, can be distinguished only by their effects on testis differentiation in backcross test fetuses with the C57BL/6J strain. Three other historical inbred strains, BUB/BnJ, ST/bJ, and SWR/J, with a domesticus-type Y chromosome but containing the 2.3-kb TaqI band, were also assayed. They permit normal testis development in backcross test fetuses with C57BL/6J.Key words: mouse, Y chromosome, gonadal hermaphrodites, primary sex determination.

scholarly journals DNA Sequence Analysis of Sry Alleles (Subgenus Mus) Implicates Misregulation as the Cause of C57BL/6J-YPOS Sex Reversal and Defines the SRY Functional Unit

Genetics ◽  
1997 ◽  
Vol 147 (3) ◽  
pp. 1267-1277 ◽  
Author(s):  
Kenneth H Albrecht ◽  
Eva M Eicher
Keyword(s):  
Sequence Analysis ◽  
Genetic Background ◽  
Ovarian Tissue ◽  
High Mobility ◽  
Sex Reversal ◽  
Protein Isoforms ◽  
Functional Domain ◽  
Unique Region ◽  
Reading Frame ◽  
Y Chromosomes

The Sry (sex determining region, Y chromosome) open reading frame from mice representing four species of the genus Mus was sequenced in an effort to understand the conditional dysfunction of some M. domesticus Sry alleles when present on the C57BL/6J inbred strain genetic background and to delimit the functionally important protein regions. Twenty-two Sry alleles were sequenced, most from wild-derived Y chromosomes, including 11 M. domesticus alleles, seven M. musculus alleles and two alleles each from the related species M. spicilegus and M. spretus. We found that the HMG domain (high mobility group DNA binding domain) and the unique regions are well conserved, while the glutamine repeat cluster (GRC) region is quite variable. No correlation was found between the predicted protein isoforms and the ability of a Sry allele to allow differentiation of ovarian tissue when on the C57BL/6J genetic background, strongly suggesting that the cause of this sex reversal is not the Sry protein itself, but rather the regulation of SRY expression. Furthermore, our interspecies sequence analysis provides compelling evidence that the M. musculus and M. domesticus SRY functional domain is contained in the first 143 amino acids, which includes the HMG domain and adjacent unique region (UR-2).

Autosomal genes involved in mammalian primary sex determination

1988 ◽  
Vol 322 (1208) ◽  
pp. 109-118 ◽  
Keyword(s):  
Y Chromosome ◽  
Ovarian Tissue ◽  
Inbred Strains ◽  
Chromosome 17 ◽  
Mus Domesticus ◽  
Inbred Strains Of Mice ◽  
Testis Determination ◽  
Two Populations ◽  
T Locus ◽  
Human Y Chromosome

Beginning with findings made during the late 1950s and early 1960s, evidence continues to accumulate in support of the hypothesis that the mammalian Y chromosome carries a gene that induces the undifferentiated foetal gonad in XY individuals to develop as a testis. Recently a DNA sequence has been isolated from the human Y chromosome that appears to be the hypothesized Y-linked testis-determining gene, and advances have also been made toward identifying genes that interact with the Y-linked testis-determining ( Tdy ) gene to initiate testis formation. These loci have been identified in specific stocks of mice carrying the mutant T hp or T orl allele at the T locus located on chromosome 17, and in crosses involving the transfer of a Y chromosome from two populations of Mus domesticus into the genomes of specific inbred strains of mice. The data in both cases support the hypothesis that there are several loci involved in testis determination and that abnormal interaction of these loci disrupts initiation of testis determination, resulting in development of ovarian tissue in XY individuals.

scholarly journals C57BL/6J-T-Associated Sex Reversal in Mice Is Caused by Reduced Expression of a Mus domesticus Sry Allele

Genetics ◽  
2001 ◽  
Vol 158 (4) ◽  
pp. 1675-1681 ◽  
Author(s):  
Linda L Washburn ◽  
Kenneth H Albrecht ◽  
Eva M Eicher
Keyword(s):  
Sequence Analysis ◽  
Y Chromosome ◽  
Ovarian Development ◽  
Inbred Strains ◽  
Sex Reversal ◽  
The Other ◽  
Chromosome 17 ◽  
Mus Domesticus ◽  
Testis Development ◽  
Normal Testis

Abstract C57BL/6J-T-associated sex reversal (B6-TAS) in XY mice results in ovarian development and involves (1) hemizygosity for Tas, a gene located in the region of Chromosome 17 deleted in Thp and TOrl, (2) homozygosity for one or more B6-derived autosomal genes, and (3) the presence of the AKR Y chromosome. Here we report results from experiments designed to investigate the Y chromosome component of this sex reversal. Testis development was restored in B6 TOrl/+XYAKR mice carrying a Mus musculus Sry transgene. In addition, two functionally different classes of M. domesticus Sry alleles were identified among eight standard and two wild-derived inbred strains. One class, which includes AKR, did not initiate normal testis development in B6 TOrl/+ XY mice, whereas the other did. DNA sequence analysis of the Sry ORF and a 5′ 800-bp segment divided these inbred strains into the same groups. Finally, we found that Sry is transcribed in B6 TOrl/+ XYAKR fetal gonads but at a reduced level. These results pinpoint Sry as the Y-linked component of B6-TAS. We hypothesize that the inability of specific M. domesticus Sry alleles to initiate normal testis development in B6 TOrl/+ XYAKR mice results from a biologically insufficient level of Sry expression, allowing the ovarian development pathway to proceed.

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 Telomere-to-telomere assembly of a fish Y chromosome reveals the origin of a young sex chromosome pair

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lingzhan Xue ◽  
Yu Gao ◽  
Meiying Wu ◽  
Tian Tian ◽  
Haiping Fan ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
Chromosome Pair ◽  
Sex Chromosome ◽  
Structural Variations ◽  
Recombination Suppression ◽  
Chromosome Differentiation ◽  
Y Chromosomes ◽  
Recent Origin ◽  
Mastacembelus Armatus

Abstract Background The origin of sex chromosomes requires the establishment of recombination suppression between the proto-sex chromosomes. In many fish species, the sex chromosome pair is homomorphic with a recent origin, providing species for studying how and why recombination suppression evolved in the initial stages of sex chromosome differentiation, but this requires accurate sequence assembly of the X and Y (or Z and W) chromosomes, which may be difficult if they are recently diverged. Results Here we produce a haplotype-resolved genome assembly of zig-zag eel (Mastacembelus armatus), an aquaculture fish, at the chromosomal scale. The diploid assembly is nearly gap-free, and in most chromosomes, we resolve the centromeric and subtelomeric heterochromatic sequences. In particular, the Y chromosome, including its highly repetitive short arm, has zero gaps. Using resequencing data, we identify a ~7 Mb fully sex-linked region (SLR), spanning the sex chromosome centromere and almost entirely embedded in the pericentromeric heterochromatin. The SLRs on the X and Y chromosomes are almost identical in sequence and gene content, but both are repetitive and heterochromatic, consistent with zero or low recombination. We further identify an HMG-domain containing gene HMGN6 in the SLR as a candidate sex-determining gene that is expressed at the onset of testis development. Conclusions Our study supports the idea that preexisting regions of low recombination, such as pericentromeric regions, can give rise to SLR in the absence of structural variations between the proto-sex chromosomes.

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