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Verfasst von:Sargent, Carole A. [VerfasserIn]   i
 Boucher, Catherine A. [VerfasserIn]   i
 Kirsch, Stefan [VerfasserIn]   i
 Brown, Graeme [VerfasserIn]   i
 Weiß, Birgit [VerfasserIn]   i
 Trundley, Anita [VerfasserIn]   i
 Burgoyne, Paul [VerfasserIn]   i
 Saut, Neomie [VerfasserIn]   i
 Durand, Christine [VerfasserIn]   i
 Levy, Nicolas [VerfasserIn]   i
 Terriou, Philippe [VerfasserIn]   i
 Hargreave, Timothy B. [VerfasserIn]   i
 Cooke, Howard [VerfasserIn]   i
 Mitchell, Michael [VerfasserIn]   i
 Rappold, Gudrun [VerfasserIn]   i
 Affara, Nabeel A. [VerfasserIn]   i
Titel:The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
Verf.angabe:Carole A. Sargent, Catherine A. Boucher, Stefan Kirsch, Graeme Brown, Birgit Weiss,Anita Trundley, Paul Burgoyne, Neomie Saut, Christine Durand, Nicolas Levy, Philippe Terriou, Timothy Hargreave, Howard Cooke, Michael Mitchell, Gudrun A. Rappold, Nabeel A. Affara
E-Jahr:1999
Jahr:September 01, 1999
Umfang:8 S.
Teil:volume:36
 year:1999
 number:9
 pages:670-677
 extent:8
Fussnoten:Gesehen am 07.04.2021
Titel Quelle:Enthalten in: Journal of medical genetics
Ort Quelle:London : BMJ Publishing Group, 1964
Jahr Quelle:1999
Band/Heft Quelle:36(1999), 9, Seite 670-677
ISSN Quelle:1468-6244
Abstract:The position of deletion breakpoints in a series of four AZFa male infertility patients has been refined using new markers derived from BAC clone DNA sequence covering the AZFa male infertility interval. The proximal half of the AZFa interval is occupied by pseudogene sequences with homology to Xp22. The distal half contains an anonymous expressed sequence tag (named AZFaT1) found transcribed in brain, testis, and skeletal muscle and the DFFRY and DBY genes. All the patients have AZFaT1 and DFFRY deleted in their entirety and three patients additionally have DBY deleted. The three patients with AZFaT1, DFFRY, and DBY deleted show a severe Sertoli cell only syndrome type I phenotype, whereas the patient that has retained DBY shows a milder oligozoospermic phenotype. The expression of DBY in a cell line from this latter patient is unaltered; this shows that it is the loss of genes lying within the deletion that is responsible for the observed oligozoospermia. RT-PCR analysis of mouse testis RNA from normal and XXSxr(a) mice (devoid of germ cells) has shown that Dby is expressed primarily in somatic cells and that the level of expression is unaltered during germ cell differentiation. This contrasts with Dffry where no transcripts are detectable in XXSxr(a) mouse testis and expression occurs specifically in testis mRNA in a germ cell dependent fashion.
DOI:doi:10.1136/jmg.36.9.670
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: http://dx.doi.org/10.1136/jmg.36.9.670
 DOI: https://doi.org/10.1136/jmg.36.9.670
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Adult
 Amino Acid Sequence
 Animals
 Chromosome Deletion
 Expressed Sequence Tags
 Humans
 Male
 Mice
 Molecular Sequence Data
 Oligospermia
 Physical Chromosome Mapping
 Reverse Transcriptase Polymerase Chain Reaction
 Sequence Deletion
 Y Chromosome
K10plus-PPN:175322151X
Verknüpfungen:→ Zeitschrift

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