A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu)
Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of...
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| Veröffentlicht in: | PLoS genetics 2012-07, Vol.8 (7), p.e1002798 |
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| creator | Kamiya, Takashi Kai, Wataru Tasumi, Satoshi Oka, Ayumi Matsunaga, Takayoshi Mizuno, Naoki Fujita, Masashi Suetake, Hiroaki Suzuki, Shigenori Hosoya, Sho Tohari, Sumanty Brenner, Sydney Miyadai, Toshiaki Venkatesh, Byrappa Suzuki, Yuzuru Kikuchi, Kiyoshi |
| description | Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought. |
| doi_str_mv | 10.1371/journal.pgen.1002798 |
| format | Article |
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Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought.</description><identifier>ISSN: 1553-7404</identifier><identifier>ISSN: 1553-7390</identifier><identifier>EISSN: 1553-7404</identifier><identifier>DOI: 10.1371/journal.pgen.1002798</identifier><identifier>PMID: 22807687</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Amino Acid Substitution - genetics ; Amino acids ; Animal genetics ; Animals ; Biological Evolution ; Biology ; Biomedical research ; Chromosomes ; Female ; Fugu ; Genetic aspects ; Genetic Association Studies ; Genetic Linkage ; Genetic polymorphisms ; Genetics ; Genomes ; Heterozygote ; Homozygote ; Kinases ; Male ; Medical research ; Mutation ; Mutation, Missense - genetics ; Physiological aspects ; R&D ; Receptors, Peptide - genetics ; Receptors, Peptide - physiology ; Receptors, Transforming Growth Factor beta - genetics ; Receptors, Transforming Growth Factor beta - physiology ; Research & development ; Sex Chromosomes - genetics ; Sex Determination Processes - genetics ; Takifugu - genetics ; Takifugu - physiology ; Vertebrates ; Zebrafish</subject><ispartof>PLoS genetics, 2012-07, Vol.8 (7), p.e1002798</ispartof><rights>COPYRIGHT 2012 Public Library of Science</rights><rights>2012 Kamiya et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Kamiya T, Kai W, Tasumi S, Oka A, Matsunaga T, et al. (2012) A Trans-Species Missense SNP in Amhr2 Is Associated with Sex Determination in the Tiger Pufferfish, Takifugu rubripes (Fugu). PLoS Genet 8(7): e1002798. doi:10.1371/journal.pgen.1002798</rights><rights>Kamiya et al. 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c726t-eea429f6956fbcd38d90caf6cc92147f2cfdd93be7744449363699f1ea7c52f13</citedby><cites>FETCH-LOGICAL-c726t-eea429f6956fbcd38d90caf6cc92147f2cfdd93be7744449363699f1ea7c52f13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395601/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395601/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22807687$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kamiya, Takashi</creatorcontrib><creatorcontrib>Kai, Wataru</creatorcontrib><creatorcontrib>Tasumi, Satoshi</creatorcontrib><creatorcontrib>Oka, Ayumi</creatorcontrib><creatorcontrib>Matsunaga, Takayoshi</creatorcontrib><creatorcontrib>Mizuno, Naoki</creatorcontrib><creatorcontrib>Fujita, Masashi</creatorcontrib><creatorcontrib>Suetake, Hiroaki</creatorcontrib><creatorcontrib>Suzuki, Shigenori</creatorcontrib><creatorcontrib>Hosoya, Sho</creatorcontrib><creatorcontrib>Tohari, Sumanty</creatorcontrib><creatorcontrib>Brenner, Sydney</creatorcontrib><creatorcontrib>Miyadai, Toshiaki</creatorcontrib><creatorcontrib>Venkatesh, Byrappa</creatorcontrib><creatorcontrib>Suzuki, Yuzuru</creatorcontrib><creatorcontrib>Kikuchi, Kiyoshi</creatorcontrib><title>A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu)</title><title>PLoS genetics</title><addtitle>PLoS Genet</addtitle><description>Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought.</description><subject>Amino Acid Substitution - genetics</subject><subject>Amino acids</subject><subject>Animal genetics</subject><subject>Animals</subject><subject>Biological Evolution</subject><subject>Biology</subject><subject>Biomedical research</subject><subject>Chromosomes</subject><subject>Female</subject><subject>Fugu</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic Linkage</subject><subject>Genetic polymorphisms</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Kinases</subject><subject>Male</subject><subject>Medical research</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Physiological aspects</subject><subject>R&D</subject><subject>Receptors, Peptide - genetics</subject><subject>Receptors, Peptide - physiology</subject><subject>Receptors, Transforming Growth Factor beta - genetics</subject><subject>Receptors, Transforming Growth Factor beta - physiology</subject><subject>Research & development</subject><subject>Sex Chromosomes - genetics</subject><subject>Sex Determination Processes - genetics</subject><subject>Takifugu - genetics</subject><subject>Takifugu - physiology</subject><subject>Vertebrates</subject><subject>Zebrafish</subject><issn>1553-7404</issn><issn>1553-7390</issn><issn>1553-7404</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqVk12L1DAUhoso7rr6D0QDgrjgjGnTNs2NMCx-DCy74q7ehkxy0mZtm5qkuoI_3ozTXaagoM1F8_GcNydvcpLkcYqXKaHpqys7ul60y6GGfplinFFW3UkO06IgC5rj_O5e_yB54P0VxqSoGL2fHGRZhWlZ0cPk5woFJ3q_8ANIAx51xnvoPaCLsw_I9GjVNS5DxiPhvZVGBFDouwkN8nCNFARwnelFMLbf0qEBFEwNDg2j1uC08c1LdCm-GD3WI3Ljxpkh7vJiOzx-mNzTovXwaPofJZ_evrk8eb84PX-3PlmdLiTNyrAAEHnGdMmKUm-kIpViWApdSsmyNKc6k1opRjZAaR4_RkpSMqZTEFQWmU7JUfJ0pzu01vPJOM9TkpKCsoLRSKx3hLLiig_OdML94FYY_nvCupoLF4xsgRNRRR8VIZiVuZTFJlNMZbRiuNSiylXUej3tNm46UBL66HA7E52v9Kbhtf3GCYknxNt0n00Czn4dwYe_pDxRtYhZmV7bKCbj9Um-IjjPy7KkVaSWf6BiU9AZaXvQJs7PAo5nAZEJcB1qMXrP1xcf_4M9-3f2_POcfb7HNiDa0HjbjttX5udgvgOls9470Lcup5hvq-TGOb6tEj5VSQx7sn9Dt0E3ZUF-ASylDM0</recordid><startdate>20120701</startdate><enddate>20120701</enddate><creator>Kamiya, Takashi</creator><creator>Kai, Wataru</creator><creator>Tasumi, Satoshi</creator><creator>Oka, Ayumi</creator><creator>Matsunaga, Takayoshi</creator><creator>Mizuno, Naoki</creator><creator>Fujita, Masashi</creator><creator>Suetake, Hiroaki</creator><creator>Suzuki, Shigenori</creator><creator>Hosoya, Sho</creator><creator>Tohari, Sumanty</creator><creator>Brenner, Sydney</creator><creator>Miyadai, Toshiaki</creator><creator>Venkatesh, Byrappa</creator><creator>Suzuki, Yuzuru</creator><creator>Kikuchi, Kiyoshi</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISN</scope><scope>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20120701</creationdate><title>A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu)</title><author>Kamiya, Takashi ; Kai, Wataru ; Tasumi, Satoshi ; Oka, Ayumi ; Matsunaga, Takayoshi ; Mizuno, Naoki ; Fujita, Masashi ; Suetake, Hiroaki ; Suzuki, Shigenori ; Hosoya, Sho ; Tohari, Sumanty ; Brenner, Sydney ; Miyadai, Toshiaki ; Venkatesh, Byrappa ; Suzuki, Yuzuru ; Kikuchi, Kiyoshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c726t-eea429f6956fbcd38d90caf6cc92147f2cfdd93be7744449363699f1ea7c52f13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Amino Acid Substitution - 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Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>22807687</pmid><doi>10.1371/journal.pgen.1002798</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Amino Acid Substitution - genetics Amino acids Animal genetics Animals Biological Evolution Biology Biomedical research Chromosomes Female Fugu Genetic aspects Genetic Association Studies Genetic Linkage Genetic polymorphisms Genetics Genomes Heterozygote Homozygote Kinases Male Medical research Mutation Mutation, Missense - genetics Physiological aspects R&D Receptors, Peptide - genetics Receptors, Peptide - physiology Receptors, Transforming Growth Factor beta - genetics Receptors, Transforming Growth Factor beta - physiology Research & development Sex Chromosomes - genetics Sex Determination Processes - genetics Takifugu - genetics Takifugu - physiology Vertebrates Zebrafish |
| title | A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu) |
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