scholarly journals Human-specific changes in two functional enhancers of FOXP2

2017 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Raúl Torres-Ruiz ◽  
Pere Gelabert Xirinachs ◽  
Carles Lalueza-Fox ◽  
Sandra Rodríguez-Perales ◽  
...  
Keyword(s):  
Vitamin D ◽  
Transcription Factors ◽  
Language Development ◽  
Brain Development ◽  
Binding Site ◽  
Ancestral Allele ◽  
Vitamin D Metabolism ◽  
Development And Evolution ◽  
Human Specific

AbstractTwo functional enhancers of FOXP2, a gene important for language development and evolution, exhibit several human-specific changes compared to extinct hominins that are located within the binding site for different transcription factors. Specifically, Neanderthals and Denisovans bear the ancestral allele in one position within the binding site for SMARCC1, involved in brain development and vitamin D metabolism. This change might have resulted in a different pattern of FOXP2 expression in our species compared to extinct hominins.

scholarly journals Unraveling Human Brain Development and Evolution Using Organoid Models

2021 ◽  
Vol 9 ◽  
Author(s):  
Sarah Fernandes ◽  
Davis Klein ◽  
Maria C. Marchetto
Keyword(s):  
Human Brain ◽  
Brain Development ◽  
Brain Region ◽  
Model Systems ◽  
Transcriptional Signature ◽  
Human Brain Development ◽  
Advanced Stages ◽  
Brain Organoid ◽  
Development And Evolution ◽  
Human Specific

Brain organoids are proving to be physiologically relevant models for studying human brain development in terms of temporal transcriptional signature recapitulation, dynamic cytoarchitectural development, and functional electrophysiological maturation. Several studies have employed brain organoid technologies to elucidate human-specific processes of brain development, gene expression, and cellular maturation by comparing human-derived brain organoids to those of non-human primates (NHPs). Brain organoids have been established from a variety of NHP pluripotent stem cell (PSC) lines and many protocols are now available for generating brain organoids capable of reproducibly representing specific brain region identities. Innumerous combinations of brain region specific organoids derived from different human and NHP PSCs, with CRISPR-Cas9 gene editing techniques and strategies to promote advanced stages of maturation, will successfully establish complex brain model systems for the accurate representation and elucidation of human brain development. Identified human-specific processes of brain development are likely vulnerable to dysregulation and could result in the identification of therapeutic targets or disease prevention strategies. Here, we discuss the potential of brain organoids to successfully model human-specific processes of brain development and explore current strategies for pinpointing these differences.

Persistent HCV-infection and liver damage change vitamin-D-metabolism

2012 ◽  
Vol 50 (01) ◽  
Author(s):  
A Amanzada ◽  
A Lindhorst ◽  
F Moriconi ◽  
M Blaschke ◽  
T Suermann ◽  
...  
Keyword(s):  
Vitamin D ◽  
Liver Damage ◽  
Hcv Infection ◽  
Vitamin D Metabolism

Adaptation of vitamin D metabolism to calcium challenge: is it dependent on parathyroid hormone?

1989 ◽  
Vol 120 (3_Suppl) ◽  
pp. S122-S123
Author(s):  
S. H. SCHARLA ◽  
H. W. MINNE ◽  
U. G. LEMPERT ◽  
C. OSWALD ◽  
H. SCHMIDT-GAYK ◽  
...  
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Vitamin D Metabolism

FGF23, iron and vitamin D metabolism in chronic kidney disease

2016 ◽  
Author(s):  
Isabelle Piec ◽  
Allison Chipchase ◽  
Holly Nicholls ◽  
Jonathan Tang ◽  
Christopher Washbourne ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Vitamin D ◽  
Kidney Disease ◽  
Vitamin D Metabolism
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