<i>Hmx2</i>homeobox gene control of murine vestibular morphogenesis

Wang, Weidong; Chan, Enoch; Baron, Shira; Water, Thomas Van De; Lufkin, Thomas

doi:10.1242/dev.128.24.5017

Cited by 76 publications

(1 citation statement)

References 35 publications

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“…Additionally, a large number of mutant mouse strains displaying circling behavior display dysfunction of the vestibular system, which in healthy animals contributes to maintaining balance, steadying gaze, and keeping track of the body within the environment. These include mutants that exhibit loss of vestibular hair cells 18 , disrupted development of stereocilia [19][20] , or disrupted structural development of the inner ear [21][22] .…”

Section: Introductionmentioning

confidence: 99%

An Open-Source Tool for Automated Human-Level Circling Behavior Detection

Stanley,

Swaminathan,

Wojahn

et al. 2023

Preprint

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Quantifying behavior and relating it to underlying biological states is of paramount importance in many life science fields. Although barriers to recording postural data have been reduced by progress in deep-learning-based computer vision tools for keypoint tracking, extracting specific behaviors from this data remains challenging. Manual behavior coding, the present gold standard, is labor-intensive and subject to intra- and inter-observer variability. Automatic methods are stymied by the difficulty of explicitly defining complex behaviors, even ones which appear obvious to the human eye. Here, we demonstrate an effective technique for detecting one such behavior, a form of locomotion characterized by stereotyped spinning, termed 'circling'. Though circling has an extensive history as a behavioral marker, at present there exists no standard automated detection method. Accordingly, we developed a technique to identify instances of the behavior by applying simple postprocessing to markerless keypoint data from videos of freely-exploring (Cib2-/-;Cib3-/-) mutant mice, a strain we previously found to exhibit circling. Our technique agrees with human consensus at the same level as do individual observers, and it achieves >90% accuracy in discriminating videos of wild type mice from videos of mutants. As using this technique requires no experience writing or modifying code, it also provides a convenient, noninvasive, quantitative tool for analyzing circling mouse models. Additionally, as our approach was agnostic to the underlying behavior, these results support the feasibility of algorithmically detecting specific, research-relevant behaviors using readily-interpretable parameters tuned on the basis of human consensus.

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Section: Introductionmentioning

confidence: 99%

An Open-Source Tool for Automated Human-Level Circling Behavior Detection

Stanley,

Swaminathan,

Wojahn

et al. 2023

Preprint

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Dlx homeobox gene control of mammalian limb and craniofacial development

Kraus

Lufkin

2006

American J of Med Genetics Pt A

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The Dlx homeobox gene family is of ancient origin and crucial for embryonic development in invertebrates and vertebrates. The Dlx proteins are thought to function as DNA-binding transcriptional regulators, likely controlling large numbers of downstream effector genes. In mammals gene expression analysis of the six members of the Dlx gene family has been demonstrated in the nervous system, neural crest derivatives, branchial arches, and developing appendages. Through genetic approaches the Dlx genes have been implicated in patterning and development of the brain, craniofacial structures, and the axial and appendicular skeleton. Substantial functional redundancy within the Dlx gene family has prevented the analysis of single gene mutations from demonstrating the full developmental control exerted by the Dlx proteins. Here, we will discuss data from recent combined loss and gain-of-function genetic mutations, which have given greater insight into the role of Dlx homeobox genes in craniofacial, limb, and bone development.

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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

Miller¹,

Nance

Wohler

et al. 2009

American J of Med Genetics Pt A

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We report on the analyses of four unrelated patients with de novo, overlapping, hemizygous deletions of the long arm of chromosome 10. These include two small terminal deletions (10q26.2 to 10qter), a larger terminal deletion (10q26.12 to 10qter), and an interstitial deletion (10q25.3q26.13). Single nucleotide polymorphism (SNP) studies (Illumina 550 K) established that these deletions resulted in the hemizygous loss of ∼6.1, ∼6.1, ∼12.5, and ∼7.0 Mb respectively. Additionally, these data establish that Patients 1, 2, and 3 share common, distal, hemizygous deleted regions of 6.09 Mb containing 37 RefSeq genes. Patients 3 and 4 share a 2.52 Mb deleted region corresponding to the proximal deleted region of Patient 3 and the distal deleted region of Patient 4. This common, hemizygous region contains 20 RefSeq genes including two H6 family homeobox genes (HMX2 and HMX3). Based on previous reports that Hmx2/Hmx3 knockout mice have vestibular anomalies, we propose that hemizygous deletions of HMX2 and HMX3 are responsible for the inner ear malformations observed from CT images, vestibular dysfunction, and congenital sensorineural hearing loss found in Patients 3 and 4.

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Hmx2homeobox gene control of murine vestibular morphogenesis

Cited by 76 publications

References 35 publications

An Open-Source Tool for Automated Human-Level Circling Behavior Detection

An Open-Source Tool for Automated Human-Level Circling Behavior Detection

Dlx homeobox gene control of mammalian limb and craniofacial development

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

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