Sex Dev

8(6) 339–398 (2014) 8 | 6 | 14 print

ISSN 1661–5425
online
e-ISSN 1661–5433
www.karger.com/sxd

Genetics, Molecular Biology, Evolution, Endocrinology, Embryology and Pathology

of Sex Determination and Differentiation

S. Karger
Medical and Scientific Publishers
Basel . Freiburg . Paris .
London . New York . Chennai .
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Shanghai . Tokyo . Kuala Lumpur .
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 Exploring vertebrate sexual differentiation

Sexual Differentiation of
Y Journal Publication

Sex Dev
8(5) 193–338 (2014) 8 | 5 | 14 print
ISSN 1661–5425
online
e-ISSN 1661–5433
www.karger.com/sxd

ISBN 978–3–318–02727–3

Vertebrate Reproductive
Sexual Differentiation of
Vertebrate Reproductive
Organs
Organs
Editors
Editors
M.B. Renfree, Melbourne, Vic.
H.H.-C. Yao, Research Triangle Park, N.C.

Marilyn B. Renfree
Humphrey H.-C. Yao
S. Karger
Medical and Scientific Publishers
Basel . Freiburg . Paris .
London . New York . Chennai .
New Delhi . Bangkok . Beijing .
Shanghai . Tokyo . Kuala Lumpur .
Singapore . Sydney

Sexual Differentiation of Vertebrate This special topic issue on Sexual Differentiation of
Reproductive Organs
Vertebrate Reproductive Organs continues and com-
Editors: Renfree, M.B. (Melbourne, Vic.);
Yao, H.H.-C. (Research Triangle Park, N.C.) plements the story that was first taken up in a previ-
146 p., 40 fig., 36 in color, 2 tab., 2014 ously published issue dealing with the Control of
CHF 45.00 / EUR 38.00 / USD 53.00 (soft cover)
CHF 54.00 / EUR 46.00 / USD 64.00 (online)
Gonadal Development. This new publication focuses
Online version for institutional purchase on the transition from sex determination to sexual
Prices subject to change differentiation. Due to the fact that most work has
EUR price for Germany, USD price for USA and
been conducted on mice, it is not surprising that
Latin America only
ISBN 978–3–318–02727–3 (soft cover) many generalisations have developed, even though
e-ISBN 978–3–318–02728–0 only some of these apply to all mammals. This special
topic issue aims to shed some light on these gener-
Special Topic Issue:
Sexual Development alisations. It covers the different mechanisms of sex
Vol. 8, No. 5 (2014) determination in mice, reptiles and birds. Further
Included in subscription
Listed in bibliographic services, including
insights are provided on the somatic lineages, go-
Pubmed/MEDLINE, EMBASE, nadal differentiation and disorders of sexual develop-
Chemical Abstracts. ment in mammals, fishes and humans. The last few
chapters focus on the development and molecular
control of the duct system and the development of
external genitalia in mammals and also discuss how
these evolved in reptiles.
This publication is recommended for anyone who
would like to know more about what directs male
and female sexual dimorphisms at molecular, cellular,
developmental, physiological and endocrinological
levels.
Dear Librarian
I have reviewed this publication and
would like to recommend it for our library.
Recommended by:
Contents
Preface: Renfree, M.B.; Yao, H.H.-C.
• Characterising Novel Pathways in Testis
Determination Using Mouse Genetics: Carré, G.A.;
Greenfield, A.
• Gonadal Differentiation in Reptiles Exhibiting
Environmental Sex Determination: Kohno, S.;
Parrott, B.B.; Yatsu, R.; Miyagawa, S.; Moore, B.C.;
Iguchi, T.; Guillette Jr., L.J.
• Gonadal Asymmetry and Sex Determination in
Birds: Guioli, S.; Nandi, S.; Zhao, D.; Burgess-Shannon, J.;
Lovell-Badge, R.; Clinton, M.
• Building an Ovary: Insights into Establishment of
Somatic Cell Lineages in the Mouse: Nicol, B.;
Yao, H.H.-C.
• Gonadal Development in Fish: Nishimura, T.;
Tanaka, M.
• The Genetics of Disorders of Sex Development in
Humans: Ohnesorg, T.; Vilain, E.; Sinclair, A.H.
• Wolffian Duct Development: Shaw, G.; Renfree, M.B.
• Molecular Genetics of Müllerian Duct Formation,
Regression and Differentiation: Mullen, R.D.;
Behringer, R.R.
• Development of the External Genitalia and Their
Sexual Dimorphic Regulation in Mice: Ipulan, L.A.;
Suzuki, K.; Matsushita, S.; Suzuki, H.; Okazawa, M.;
Jacinto, S.; Hirai, S.; Yamada, G.
• Evolution of External Genitalia: Insights from
Reptilian Development: Gredler, M.L.; Larkins, C.E.;
Leal, F.; Lewis, A.K.; Herrera, A.M.; Perriton, C.L.;
Sanger, T.J.; Cohn, M.J.
• Hormone-Independent Pathways of Sexual
Differentiation: Renfree, M.B.; Chew, K.Y.; Shaw, G.
Author Index

Department:

Date:

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Editors-in-Chief
Michael Schmid
Department of Human Genetics
University of Würzburg
Biozentrum, Am Hubland
D–97074 Würzburg (Germany)
Tel. (+49) 931 318 4077; Fax (+49) 931 318 4058
E-mail: m.schmid@biozentrum.uni-wuerzburg.de
Managing Editors
Martina Guttenbach (address as for M. Schmid)
E-mail: guttenbach@biozentrum.uni-wuerzburg.de
Karin Schmid (address as for M. Schmid)
E-mail: karin.schmid@uni-wuerzburg.de
Sections and Section Editors
 Genetics 
Richard Behringer
Department of Genetics
University of Texas
M.D. Anderson Cancer Center
1515 Holcombe Bvld.
Houston, TX 77030 (USA)
Tel: (+1) 713 834 6327; Fax: (+1) 713 834 6339
Email: rrb@mdanderson.org
 Molecular Biology 
David Zarkower
Department of Genetics, Cell Biology
and Development, University of Minnesota
6-160 Jackson Hall, 321 Church Street, SE
Minneapolis, MN 55455 (USA) Tel. (+81) 926 42 6180; Fax (+81) 926 42 6181
Tel. (+1) 612 625 9450; Fax (+1) 612 626 7031
E-mail: zarko001@umn.edu
Robin Lovell-Badge
Division of Developmental Genetics
MRC National Institute for Medical Research
The Ridgeway, Mill Hill
London, NW7 1AA (UK)
Tel: (+44) 20 8816 2126; Fax: (+44)-20-8816-2009
E-mail rlovell@nimr.mrc.ac.uk
 Evolution 
David Crews
Section of Integrative Biology
University of Texas at Austin
Austin, TX 78712 (USA)
Tel. (+1) 512 471 1113; Fax (+1) 512 471 6078
E-mail: crews@mail.utexas.edu
Horacio Merchant-Larios
Instituto de Investigaciones Biomedicas
Universidad Nacional Autonoma de Mexico
Apartado Postal 70228
Ciudad Universitaria
04510 Mexico, D.F. (Mexico)
Tel. (+1) 512 471 1113; Fax (+1) 512 471 6078
E-mail: merchant@biomedicas.unam.mx
Genetics, Molecular Biology, Evolution, Endocrinology, Embryology
and Pathology of Sex Determination and Differentiation
Founded 2007 by M. Schmid, G. Scherer (2007–2012) and M. Schartl
Peter Koopman
Professor of Developmental Biology
Institute for Molecular Bioscience
The University of Queensland
AU–Brisbane, Qld. 4072 (Australia)
Tel. (+61) 7 3346 2059; Fax. (+61) 7 3346 2101
E-mail p.koopman@imb.uq.edu.au
Tanja Gösswein (address as for M. Schmid)
E-mail: goesswein@biozentrum.uni-wuerzburg.de
 Endocrinology 
Olaf Hiort
Pädiatrische Endokrinologie und Diabetologie
Klinik für Kinder- und Jugendmedizin
Universitätsklinikum Schleswig-Holstein,
Campus Lübeck, Ratzeburger Allee 160
D–23538 Lübeck (Germany)
Tel.: (+49) 451 500 2191; Fax (+49) 451 500 6867
E-mail: hiort@paedia.ukl.mu-luebeck.de
Ken-ichirou Morohashi
Department of Molecular Biology
Graduate School of Medical Sciences
Kyushu University
Maidashi 3–1–1, Higashi-ku
Fukuoka 812–8582 (Japan)
E-mail: moro@cell.med.kyushu-u.ac.jp
 Developmental Biology 
Marilyn B. Renfree
Department of Zoology
The University of Melbourne
Melbourne, VIC 3010 (Australia)
Tel: (+61) 3 8344 4376; Fax: (+61) 3 9348 1719
E-mail m.renfree@zoology.unimelb.edu.au
Blanche Capel
Department of Cell Biology
4026 GSRBII, Box 3471
Duke University Medical Center
Durham, NC 27710 (USA)
Tel: (+1) 919 684 6390; Fax: (+1) 919 668 3467
E-mail b.capel@cellbio.duke.edu
 Pathology 
Eric Vilain
UCLA
Department of Human Genetics
Gonda Center # 5506
695 Charles Young Drive South
Los Angeles, CA 90095 (USA)
Tel.: (+1) 310 267 2455; Fax: (+1) 310 794 5446
E-mail evilain@ucla.edu
Manfred Schartl
Institute of Physiological Chemistry I
University of Würzburg
Biozentrum, Am Hubland
D–97074 Würzburg (Germany)
Tel. (+49) 931 318 4148; Fax (+49) 931 318 4150
E-mail: phch1@biozentrum.uni-wuerzburg.de
Editorial Administrator
Claus Steinlein (address as for M. Schmid)
E-mail: claus.steinlein@biozentrum.uni-wuerzburg.de
Ken McElreavey
Institut Pasteur
25 rue du Dr Roux
75724 Paris (France)
Tel: (+33) 1 4568 8920; Fax: (+33) 1 4568 9639
E-mail kenneth.mcelreavey@pasteur.fr
Editorial Board Members
Silvano Bertelloni, Pisa
Monica Bullejos, Jaén
Marie-Christine Chaboissier, Nice
Avner Cnaani, Bet Dagan
Andy Greenfield, Oxfordshire
Yann Guiguen, Rennes
Vincent Harley, Clayton, Vic.
Paul-Martin Holterhus, Kiel
Rafael Jiménez, Granada
Nathalie Josso, Clamart
Yoshiakira Kanai, Tokyo
Solange Magre, Paris
Vicky Meyers-Wallen, Ithaca, N.Y.
Ikuo Miura, Hiroshima
Yoshitaka Nagahama, Okazaki
Serge Nef, Genève
Eric Pailhoux, Jouy-en-Josas
Rodolfo Rey, Buenos Aires
Turk Rhen, Grand Forks, N.Dak.
Andrew Sinclair, Melbourne, Vic.
Craig Smith, Parkville, Vic.
Minuru Tanaka, Okazaki
Nicole Valenzuela, Ames, Iowa
Mark B. Van Doren, Baltimore, Md.
Dagmar Wilhelm, Clayton, Vic.
Gen Yamada, Wakayama
Humphrey Hung-Chang Yao,
Research Triangle Park, N.C.
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Aims and Scope
Recent experimental and clinical research have led to
impressive advances in our knowledge of the genetic
and environmental mechanisms governing sex deter-
mination and differentiation, their evolution as well as
the mutations or endocrine and metabolic abnormali-
ties that interfere with normal gonadal development.
The new journal Sexual Development aspires to pro-
vide a unique forum for this rapidly expanding field. Its
broad scope will cover all aspects of genetics, molecu-
lar biology, embryology, endocrinology, evolution and
pathology of sex determination and differentiation in
humans and animals. It will publish high-quality origi-
nal research manuscripts, review articles, short reports,
case reports and commentaries. Sexual Development is
a modern journal managed by an internationally re-
nowned and multidisciplinary editorial team of three
Chief Editors and ten prominent scientists serving as
Section Editors, supported by a distinguished panel of
editorial board members. They are committed to en-
suring fast and author-friendly editorial processing
and peer reviewing. Contributions from the scientific
community are invited to make Sexual Development
the long-awaited and viable forum for basic and medi-
cal research on sex determination and differentiation.
Sexual Development
Publishes high-quality original reports and reviews
covering all biological and clinical aspects of human
and animal sexual determination and differentiation.
Categories of publications in conventional issues
Original Articles are full reports in the following ­areas
• Genetics • Molecular Biology • Evolution • Endo-
crinology • Embryology • Pathology of Sex Determi-
nation and Differentiation. Other categories closely
related to the above topics could be considered by con-
tacting the editors for approval.
Reviews covering a timely topic in the field are either
invited by the Editors or may be submitted for con-
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Short Reports must present results of sufficient impor-
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and include a maximum of 2 figures, 1 table and 20
references. One printed text page corresponds to about
1,050 words or 5,700 characters.
Case Reports are for de novo observations of single
cases with clinical or scientific significance. Reports
of single mutations at genes, endocrine or metabolic
abnormalities which have already been documented
will be published only if they are of unusual clinical or
biological interest. Brevity and clarity are always likely
to enhance the chance of a manuscript being accepted
for publication.
Commentaries is a forum for observations, opinions
and comments outside the realm of conventional sci-
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Monographs in Human Genetics

Monographs in
Editor: M. Schmid
Vol. 19

Craniosynostoses

Human Genetics
Molecular Genetics, Principles of
Diagnosis, and Treatment
Editors
M. Muenke
W. Kress
H. Collmann
Series Editor B.D. Solomon
Results of sophisticated genetic studies
Schmid, M. (Würzburg)
Human genetics represents a highly diversified field covering an ever-increasing number of
topics ranging from basic research to medical practice. The well-established book series
Monographs in Human Genetics focuses on important hereditary diseases, their molecular
basis, clinical impact and eventual treatment. With its concise but highly informative reviews
by experts from different fields, Monographs in Human Genetics provides essential reading
not only for researchers but also for physicians and students interested in specific genetic
diseases.

Monographs in Human Genetics Vol. 19: Craniosynostoses
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An Overview Encompassing Learning
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 Focusing on a cutting-edge area of
genetics and evolution

Accelerating Evolutionary
P u b l i c a t i o n

J Mol Microbiol Biotechnol

21(1–2) 1–82 (2011) 21 | 1–2 | 11 print
ISSN 1464–1801
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ISBN 978–3–8055–9920–7

Change through Adaptive

Microbiology; Genetics; Bacteriology, Molecular Biology,

and Directed Mutation

Cell Biology, Infectious Diseases, Embryology

Accelerating Evolutionary
Change through Adaptive
Editor
J o u r n a l

and Directed Mutation

Editor
Milton H. Saier, La Jolla, Calif.
Milton H. Saier

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Mutation provides the molecular basis for evo-

Contents
lutionary change. Directed mutation occurs
specifically in response to the stress condition
Introduction: Did Adaptive and Directed Transcriptional De-Repression and Mfd
that the induced mutation relieves, while
Mutation Evolve to Accelerate Stress- Are Mutagenic in Stressed Bacillus subtilis
adaptive mutation is defined as a mutation
Induced Evolutionary Change?: Cells: Martin, H.A.; Pedraza-Reyes, M.;
that occurs at variable rates depending on Saier, M.H., Jr. Yasbin, R.E.; Robleto, E.A.
conditions, particularly stress conditions, that
enhance these rates, but is not targeted to a What Limits the Efficiency of Double-Strand Transposon-Mediated Adaptive and Directed
specific site. Adaptive mutation is less contro- Break-Dependent Stress-Induced Mutation Mutations and Their Potential Evolutionary
versial than directed mutation, but the mecha- in Escherichia coli?: Shee, C; Ponder, R; Benefits: Zhang, Z.; Saier, M.H., Jr.
nisms involved are in many cases still poorly Gibson, J.L.; Rosenberg, S.M.
Specific and Nonspecific Host Adaptation
defined. Fitness Effects of Mutations in Bacteria: during Arboviral Experimental Evolution:
This written symposium on the nature, mecha- Gordo, I.; Perfeito, L.; Sousa, A. Novella, I.S.; Presloid, J.B.; Smith, S.D.;
nisms and consequences of adaptive and di- Wilke, C.O.
rected mutation focuses on recent research Stress-Induced Modulators of Repeat
dealing with these novel cutting-edge areas of Instability and Genome Evolution:
Fonville, N.C.; Ward, R.M.; Mittelman, D.
Author Index
genetics and evolution. Presenting several Subject Index
points of view, it will bring the reader up to
date with respect to current research in the
field using different experimental systems.
Anyone interested in novel mechanisms of
evolutionary change via mutation will find this
written symposium, the first of its kind, a fasci-
nating and essential read.
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 Rare Diseases:
Y Journal Publication

Public Health Genomics

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 A current overview

The Genome-Wide Array

R e p r i n t

Genetics; Pediatrics; Chromosomes, Genomics, Perinatal Medicine

The Genome-Wide
Array Revolution Revolution in Clinical
Cytogenetics: From
in Clinical Cytogenetics
From Discoveries to Diagnoses
J o u r n a l

Discoveries to Diagnoses
Editor
M. Poot

3,0

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The introduction of genome-wide array plat-

Contents
forms a decade ago has truly revolutionized
clinical cytogenetics. The use of these tech-
Preface: Poot, M.
niques has widened the spectrum of the hu-
man genomic variation detected and presen-
Genome Arrays for the Detection of Copy
ted both, unprecedented opportunities as well
Number Variations in Idiopathic Mental
as challenges.
Retardation, Idiopathic Generalized
This special issue of Cytogenetic and Genome
Epilepsy and Neuropsychiatric Disorders:
Research describes the variety of tools used
Lessons for Diagnostic Workflow and
and deals with the challenges relating to the
Research: Hochstenbach, R.;
clinical diagnostic implementation of geno- Buizer-Voskamp, J.E.; Vorstman, J.A.S.;
me-wide array technologies. Furthermore it Ophoff, R.A.
provides a current overview of the genome- Clinical Laboratory Implementation of
wide array revolution in clinical cytogenetics Cytogenomic Microarrays: South, S.T.;
with an emphasis on approaches to turn dis- Brothman, A.R.
coveries of novel structural genome rearran- SNP Array Analysis in Constitutional and
gements into diagnostically relevant results. Cancer Genome Diagnostics – Copy
This publication will be of benefit to clinical Number Variants, Genotyping and Quality
geneticists, general pediatricians and scien- Control: de Leeuw, N.; Hehir-Kwa, J.Y.;
tists interested in the field of fundamental and Simons, A.; Geurts van Kessel, A.; Smeets, D.F.;
clinically applied genetics and genomics. Faas, B.H.W.; Pfundt, R.
Interpretation of Array Comparative Genome
Hybridization Data: A Major Challenge:
Gijsbers, A.C.J.; Schoumans, J.;
Ruivenkamp, C.A.L.
Disentangling the Myriad Genomics of
Complex Disorders, Specifically Focusing
on Autism, Epilepsy, and Schizophrenia:
Poot, M.; van der Smagt, J.J.; Brilstra, E.H.;
Bourgeron, T.
From Karyotyping to Array-CGH in Prenatal
Diagnosis: Lichtenbelt, K.D.; Knoers, N.V.A.M.;
Schuring-Blom, G.H.
Challenges of Interpreting Copy Number
Variation in Syndromic and Non-Syndro-
mic Congenital Heart Defects: Breckpot, J.;
Thienpont, B.; Arens, Y.; Tranchevent, L.C.;
Vermeesch, J.R.; Moreau, Y.; Gewillig, M.;
Devriendt, K.
Array CGH in Human Leukemia: From
Somatics to Genetics: van der Veken, L.T.;
Buijs, A.
Origins and Breakpoint Analyses of Copy
Number Variations: Up Close and Personal:
van Binsbergen, E.
Functional Enrichment Analysis with
Structural Variants: Pitfalls and Strategies:
Webber, C.

Author Index
KI 11281

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The Genome-Wide Array Revolution in Please send: copy/ies Fax: +41 61 306 12 34
Clinical Cytogenetics: From Discoveries to
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Cytogenetic and Genome Research Exp. date:
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 A timely update on recent developments in
repetitive DNA research

Repetitive DNA
Genome Dynamics
Editor: M. Schmid
Vol. 7

Repetitive DNA
Editor
M.A. Garrido-Ramos

Editor

Genetics; Molecular Biology; Chromosomes,

Manuel A. Garrido-Ramos

Evolutionary Biology, Genomics

The experimental data that have been gener-
Contents
ated using new molecular techniques associ-
ated with the completion of genome projects
Editorial: Schmid, M. Satellite DNA Evolution: Plohl, M.; Meštrović, N.;
have changed our perception of the structural
Preface: Garrido-Ramos, M.A. Mravinac, B.
features, functional implications and evolu-
The Repetitive DNA Content of Eukaryotic Satellite DNA-Mediated Effects on Genome
tionary dynamics of repetitive DNA sequences.
Genomes: López-Flores, I.; Regulation: Pezer, Ž.; Brajković, J.; Feliciello, I.;
This volume of Genome Dynamics provides a Garrido-Ramos, M.A. Ugarković, Đ.
valuable update on recent developments in Telomere Dynamics in Mammals: The Birth-and-Death Evolution of Multigene
research into multigene families, centromeres, Silvestre, D.C.; Londoño-Vallejo, A. Families Revisited: Eirín-López, J.M.;
telomeres, microsatellite DNA, satellite DNA, Drosophila Telomeres: an Example of Rebordinos, L.; Rooney, A.P.; Rozas, J.
and transposable elements. Each chapter pres- Co-Evolution with Transposable Elements: Chromosomal Distribution and Evolution
ents a review by distinguished experts and Silva-Sousa, R.; López-Panadès, E.; of Repetitive DNAs in Fish: Cioffi, M.B.;
analyzes repetitive DNA diversity and abun- Casacuberta, E. Bertollo, L.A.C.
dance, as well as the impact on genome struc- The Evolutionary Dynamics of Transposable
ture, function and evolution. Elements in Eukaryote Genomes: Tollis, M.; Author Index
This publication is targeted at scientists and Boissinot, S. Abbreviations
scholars at every level, from students to fac- SINEs as Driving Forces in Genome Evolution: Latin Species Names
ulty members, and, indeed, anyone involved Schmitz, J. Subject Index
or interested in genetics, molecular evolution, Unstable Microsatellite Repeats Facilitate
molecular biology as well as genomics will find Rapid Evolution of Coding and Regulatory
it a valuable source of up-to-date information. Sequences: Jansen, A.; Gemayel, R.;
Verstrepen, K.J.
KI 12253

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Series Editor: Schmid, M. (Würzburg)
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8 | 6 | 14

Original Articles

339 Promoter-Dependent Activity on Androgen Receptor N-Terminal Domain Mutations

in Androgen Insensitivity Syndrome
Tadokoro-Cuccaro, R.; Davies, J. (Cambridge); Mongan, N.P. (Nottingham); Bunch, T.
(Cambridge); Brown, R.S. (Boston, Mass.); Audi, L. (Barcelona); Watt, K.; McEwan, I.J.
(Aberdeen); Hughes, I.A. (Cambridge)
350 Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser
Mutation in the Androgen Receptor
Petroli, R.J. (Campinas/Lübeck); Hiort, O.; Struve, D. (Lübeck); Maciel-Guerra, A.T.;
Guerra-Júnior, G.; Palandi de Mello, M. (Campinas); Werner, R. (Lübeck)
356 Anatomical and Molecular Analyses of XY Ovaries from the African Pygmy Mouse
Mus minutoides
Rahmoun, M.; Perez, J.; Saunders, P.A.; Boizet-Bonhoure, B. (Montpellier); Wilhelm, D.
(Clayton, Vic.); Poulat, F.; Veyrunes, F. (Montpellier)
364 Chronology, Magnitude and Duration of Expression of Putative Sex-Determining/
Differentiation Genes in a Turtle with Temperature-Dependent Sex Determination
Bieser, K.L. (Birmingham, Ala./Ashland, Wis.); Wibbels, T. (Birmingham, Ala.)
376 Expression Analysis of sox3 during Testicular Development, Recrudescence, and
after hCG Induction in Catfish, Clarias batrachus
Rajakumar, A.; Senthilkumaran, B. (Hyderabad)
387 Characterization and Differential Expression Patterns of Conserved microRNAs and
mRNAs in Three Genders of the Rice Field Eel (Monopterus albus)
Gao, Y.; Guo, W.; Hu, Q.; Zou, M.; Tang, R.; Chi, W.; Li, D. (Wuhan)

after 398 Contents Vol. 8, 2014