Navigation überspringen
Universitätsbibliothek Heidelberg
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Weiß, Birgit [VerfasserIn]   i
 Röth, Ralph [VerfasserIn]   i
 Hinderhofer, Katrin [VerfasserIn]   i
 Rappold, Gudrun [VerfasserIn]   i
Titel:Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes
Verf.angabe:Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit and Gudrun A. Rappold
E-Jahr:2021
Jahr:04 June 2021
Umfang:8 S.
Fussnoten:Gesehen am 08.07.2021
Titel Quelle:Enthalten in: Frontiers in endocrinology
Ort Quelle:Lausanne : Frontiers Research Foundation, 2010
Jahr Quelle:2021
Band/Heft Quelle:12(2021) vom: 4. Juni, Artikel-ID 660731
ISSN Quelle:1664-2392
Abstract:Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated by Sanger sequencing in the trio and three other affected and one unaffected family members. Network analysis was carried out to assess links between the candidates, and the transcriptome of murine growth plate was analyzed by microarray as well as RNA Seq. Heterozygous gene variants in CEP104, CROCC, NEK1, TOM1L2 and TSTD2 predicted as damagingwere found to be shared between the four tall family members.Three of the five genes (CEP104, CROCC and NEK1) belong to the ciliary gene family. All genes are expressed in mouse growth plate. Pathway and network analysis indicated close functional connections. Together, these data expand the spectrum of genes with a role in linear growth and tall stature phenotypes.
DOI:doi:10.3389/fendo.2021.660731
URL:kostenfrei: Volltext ; Verlag: https://doi.org/10.3389/fendo.2021.660731
 kostenfrei: Volltext: https://www.frontiersin.org/articles/10.3389/fendo.2021.660731/full
 DOI: https://doi.org/10.3389/fendo.2021.660731
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:ciliary genes
 exome sequencing
 Growth
 Growth Plate
 non-syndromic tall stature
 Oligogenic inheritance
K10plus-PPN:1762508141
Verknüpfungen:→ Zeitschrift
 
 
Lokale URL UB: Zum Volltext

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/68757638   QR-Code
zum Seitenanfang