Characterisation of the M-locus and functional analysis of the male-determining gene in the housefly

Yanli Wu

Characterisation of the M-locus and functional analysis of the male-determining gene in the housefly

Yanli Wu

Beukeboom lab - Evolutionary Genetics

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Samenvatting

De huisvlieg, Musca domestica, is een uitstekend modelsysteem om de evolutie van geslachtsbepalingsmechanismen en geslachtschromosomen te bestuderen. In deze soort komen namelijk verschillende geslachtsbepalingssystemen voor. Normaliter is er sprake van een XY-systeem, waarbij het Y-chromosoom een dominant gen voor mannelijkheid (M-locus) draagt. M-loci zijn echter ook gevonden op andere chromosomen (autosomen) in natuurlijke populaties. Onlangs is het Mdmd-gen (voor Musca domestica male determiner) geïdentificeerd, dat mannelijke ontwikkeling veroorzaakt in huisvliegen met een autosomaal M-locus. Wanneer Mdmd uitgeschakeld wordt, ontwikkelen embryo's zich alleen tot vrouwtjes. Dit Mdmd-gen lijkt op een ander gen, namelijk CWC22, dat betrokken is bij de splicing van mRNA. Door de structuur van het M-locus te bestuderen werden meerdere opeenvolgende kopieën van Mdmd ontdekt, die verschillen in hoe sterk ze op elkaar lijken. Slechts één van deze kopieën lijkt functioneel te zijn, en dus het daadwerkelijke Mdmd-gen te zijn. De aminozuurvolgorde van het bijbehorende Mdmd-eiwit lijkt sterk op dat van het CWC22-eiwit, wat suggereert dat Mdmd is ontstaan vanuit een kopie van CWC22. Daarnaast blijken andere M-loci ook te bestaan uit meerdere kopieën van Mdmd. Mijn onderzoek laat zien dat het dupliceren van geslachtsbepalingsgenen en verplaatsen van gecompliceerde genomische regionen beiden een belangrijke rol spelen in de evolutie van geslachtschromosomen.

Originele taal-2	English
Kwalificatie	Doctor of Philosophy
Toekennende instantie	Rijksuniversiteit Groningen
Begeleider(s)/adviseur	Beukeboom, Leo, Supervisor Wimmer, E. A. , Supervisor, Externe Persoon Jacobus Mgn Van De Zande, Louis, Co-supervisor Kok, J., Beoordelingscommissie, Externe Persoon Bucher, G., Beoordelingscommissie, Externe Persoon Saccone, G., Beoordelingscommissie, Externe Persoon Huang, Y, Beoordelingscommissie, Externe Persoon
Datum van toekenning	5-jan.-2018
Plaats van publicatie	[Groningen]
Uitgever	University of Groningen
Gedrukte ISBN's	978-94-034-0162-1
Elektronische ISBN's	978-94-034-0161-4
Status	Published - 2018

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Title and contentsFinal publisher's version, 245 KB
Chapter 1Final publisher's version, 2,47 MB
Chapter 2Final publisher's version, 1,42 MB
Chapter 3Final publisher's version, 3,89 MB
Chapter 4Final publisher's version, 19,3 MB
Chapter 5Final publisher's version, 592 KB
ReferencesFinal publisher's version, 142 KB
English summaryFinal publisher's version, 102 KB
Nederlandse samenvattingFinal publisher's version, 88,5 KB
Deutsche ZusammenfassungFinal publisher's version, 90,9 KB
AcknowledgementsFinal publisher's version, 85,1 KB
Complete thesisFinal publisher's version, 27,7 MB
PropositionsFinal publisher's version, 68,6 KB

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Permanente koppeling

What egg-producing housefly males can tell us about the evolution of sex determination
Leo Beukeboom, Akash Sharma, Yanli Wu & Louis van de Zande
12/05/2017 → 15/01/2018
3 items van Media-aandacht
Pers / media: Onderzoek › Academic

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title = "Characterisation of the M-locus and functional analysis of the male-determining gene in the housefly",

abstract = "The housefly, Musca domestica, is an ideal model to study the evolution of sex determination and sex chromosomes as it harbours various sex determination systems. For instance, the dominant male determiner (M) is normally located on the Y-chromosome, but can also be present on different autosomes in natural populations. Recently, we identified Mdmd (Musca domestica male determiner) as the male-determining gene in a housefly strain with an M on chromosome 3. Mdmd is considered to be the functional male-determining gene as targeted disruption of it leads to female development. Mdmd is a paralog of the splicing regulatory gene CWC22. The goal of my thesis was to further analyse the genomic structure of the M-locus and the function of Mdmd. Multiple tandemly arranged copies of Mdmd were detected that show various levels of homology to each other. Of these variants only one copy appears to contain an intact open reading frame, which is assumed to be the coding sequence of Mdmd. Comparison of Mdmd protein sequences with its paralog CWC22/NCM revealed that Mdmd protein sequences have a close phylogenetic relationship with Md-NCM, suggesting that the male-determining gene Mdmd evolved from a single duplication event of Md-ncm. Moreover, a similar clustered organization of Mdmd copies is found in M-loci on different autosomes, indicating that amplification of sex determination genes and translocation of complex sex determination regions, may be an important process in sex chromosome evolution.",

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N2 - The housefly, Musca domestica, is an ideal model to study the evolution of sex determination and sex chromosomes as it harbours various sex determination systems. For instance, the dominant male determiner (M) is normally located on the Y-chromosome, but can also be present on different autosomes in natural populations. Recently, we identified Mdmd (Musca domestica male determiner) as the male-determining gene in a housefly strain with an M on chromosome 3. Mdmd is considered to be the functional male-determining gene as targeted disruption of it leads to female development. Mdmd is a paralog of the splicing regulatory gene CWC22. The goal of my thesis was to further analyse the genomic structure of the M-locus and the function of Mdmd. Multiple tandemly arranged copies of Mdmd were detected that show various levels of homology to each other. Of these variants only one copy appears to contain an intact open reading frame, which is assumed to be the coding sequence of Mdmd. Comparison of Mdmd protein sequences with its paralog CWC22/NCM revealed that Mdmd protein sequences have a close phylogenetic relationship with Md-NCM, suggesting that the male-determining gene Mdmd evolved from a single duplication event of Md-ncm. Moreover, a similar clustered organization of Mdmd copies is found in M-loci on different autosomes, indicating that amplification of sex determination genes and translocation of complex sex determination regions, may be an important process in sex chromosome evolution.

AB - The housefly, Musca domestica, is an ideal model to study the evolution of sex determination and sex chromosomes as it harbours various sex determination systems. For instance, the dominant male determiner (M) is normally located on the Y-chromosome, but can also be present on different autosomes in natural populations. Recently, we identified Mdmd (Musca domestica male determiner) as the male-determining gene in a housefly strain with an M on chromosome 3. Mdmd is considered to be the functional male-determining gene as targeted disruption of it leads to female development. Mdmd is a paralog of the splicing regulatory gene CWC22. The goal of my thesis was to further analyse the genomic structure of the M-locus and the function of Mdmd. Multiple tandemly arranged copies of Mdmd were detected that show various levels of homology to each other. Of these variants only one copy appears to contain an intact open reading frame, which is assumed to be the coding sequence of Mdmd. Comparison of Mdmd protein sequences with its paralog CWC22/NCM revealed that Mdmd protein sequences have a close phylogenetic relationship with Md-NCM, suggesting that the male-determining gene Mdmd evolved from a single duplication event of Md-ncm. Moreover, a similar clustered organization of Mdmd copies is found in M-loci on different autosomes, indicating that amplification of sex determination genes and translocation of complex sex determination regions, may be an important process in sex chromosome evolution.

M3 - Thesis fully internal (DIV)

SN - 978-94-034-0162-1

PB - University of Groningen

CY - [Groningen]

ER -

Characterisation of the M-locus and functional analysis of the male-determining gene in the housefly

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What egg-producing housefly males can tell us about the evolution of sex determination

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