The Oculo-Cerebral-Renal Syndrome of Lowe

Kornfeld, Mario

doi:10.1001/archneur.1975.00490440053008

Cited by 15 publications

(1 citation statement)

References 13 publications

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“…Human EDA2R was recently identified as a top correlate of cognitive performance and brain size 42 ; it was also found in a human GWAS study to correlate with circulating estrogen and testosterone levels 43 . Rare mutations in human PHETA1 lead to Lowe oculocerebrorenal syndrome, the pathophysiology that includes seizures, mental retardation, and structural brain abnormalities 44,45 . SIX2 is a homeobox domain containing transcription factor that governs early brain and craniofacial development, and provides neuroprotection from dopamine injury 46,47 .…”

Section: Gene Drivers Of E2-treated Female Hvc Specializationmentioning

confidence: 99%

Sex chromosome gene expression associated with vocal learning following hormonal manipulation in female zebra finches

Davenport

Choe²,

Matsunami

et al. 2021

Preprint

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Zebra finches are sexually dimorphic vocal learners. Males learn to sing by imitating mature conspecifics, but females do not. The lack of vocal learning in females is associated with anatomical differences in the neural circuits responsible for vocal learning, including the atrophy of several brain regions during development1. However, this atrophy can be prevented and song learning retained in females after pharmacological estrogen treatment2–4. Little is known about the genetic machinery controlling this sex and estrogen responsive song system development. To screen for drivers, we performed an unbiased analysis of transcriptomes from song control nuclei and surrounding motor regions in zebra finches of either sex treated with 17-β-estradiol or vehicle until sacrifice on day 30, when divergence between the sexes is anatomically apparent. Utilizing the newly assembled autosomes and sex chromosomes from the zebra finch Vertebrate Genomes Project assemblies5, we identified correlated gene modules that were associated to song nuclei in a sex and estradiol dependent manner. Female estradiol treated HVC, in the vocal learning circuit, acquired the smallest of the modular specializations observed in male HVC. This module was enriched for genes governing anatomical development, and it’s specilization was dispraportionately influenced by the expression of Z sex chromosome transcripts in HVC. We propose that vocal learning may be prevented in female zebra finches via the suppression of an estrogen inducible Z chromosome cis-acting regulatory element.

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