Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A Case Report of Cervical Digit: Heterogeneous Condition.

Journal of orthopaedic case reports·2026
Same author

Imaging Spectrum of Childhood Interstitial Lung Diseases: Focus on Disorders Not Specific to Infancy.

Radiographics : a review publication of the Radiological Society of North America, Inc·2026
Same author

Pediatric Rheumatic Disorders Revisited: Integrating Imaging and Pathophysiologic Insights across the Autoinflammatory-Autoimmune Continuum.

Radiographics : a review publication of the Radiological Society of North America, Inc·2026
Same author

Imaging findings in pediatric interferonopathies.

Pediatric radiology·2026
Same author

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Molecular syndromology·2026
Same author

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

Congenital anomalies·2026

Related Experiment Video

Updated: May 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

PAPSS2 mutations cause autosomal recessive brachyolmia.

Noriko Miyake1, Nursel H Elcioglu, Aritoshi Iida

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nmiyake@yokohama-cu.ac.jp

Journal of Medical Genetics
|July 14, 2012
PubMed
Summary

Researchers identified PAPSS2 as the gene responsible for autosomal recessive brachyolmia, a rare skeletal dysplasia. This discovery sheds light on the genetic causes of brachyolmia and related skeletal conditions.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
07:07

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Related Experiment Videos

Last Updated: May 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
07:07

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Area of Science:

  • Genetics
  • Skeletal Biology
  • Medical Research

Background:

  • Brachyolmia is a group of skeletal dysplasias affecting the spine, with known genetic and clinical variations.
  • While autosomal dominant forms are linked to TRPV4 mutations, the genetic basis for autosomal recessive brachyolmia remained unknown.
  • This study focused on a Turkish family with autosomal recessive brachyolmia to identify the causative gene.

Purpose of the Study:

  • To identify the disease gene responsible for autosomal recessive (AR) brachyolmia.
  • To investigate the genetic underpinnings of skeletal dysplasia in affected families.

Main Methods:

  • Exome capture and next-generation sequencing were performed on affected individuals from a Turkish family.
  • Loss-of-function mutations in PAPSS2 were identified in affected individuals.
  • Phenotypic and radiographic features of six patients with PAPSS2 mutations were analyzed.

Main Results:

  • PAPSS2 (phosphoadenosine-phosphosulfate synthetase 2) was identified as the disease gene for AR brachyolmia.
  • Six patients across three families presented with homozygous or compound heterozygous loss-of-function PAPSS2 mutations.
  • Radiographic findings included vertebral anomalies, premature calcification of rib cartilage, and variable changes in long bones.

Conclusions:

  • PAPSS2 is identified as the causative gene for autosomal recessive brachyolmia.
  • Mutations in PAPSS2 lead to a spectrum of skeletal dysplasias, ranging from brachyolmia to spondylo-epiphyseal dysplasia.