Hox genes in digit development and evolution

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Coordinate expression of the murine Hox-5 complex homoeobox-containing genes during limb pattern formation

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Mutation of HOXA13 in hand-foot-genital syndrome

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Analysis of Hox gene expression in the chick limb bud

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Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs

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Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod

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Of fingers, toes and penises

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Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts

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Murine genes related to the Drosophila AbdB homeotic genes are sequentially expressed during development of the posterior part of the body.

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Hox gene expression in teleost fins and the origin of vertebrate digits

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Homeotic transformations and limb defects in Hox A11 mutant mice.Preprint

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Specific and redundant functions of the paralogous Hoxa-9 and Hoxd-9 genes in forelimb and axial skeleton patterning

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Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11

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Spatially restricted domains of homeo-gene transcripts in mouse embryos: relation to a segmented body plan

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A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse

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Gene Transpositions in the HoxD Complex Reveal a Hierarchy of Regulatory Controls

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Regulation of number and size of digits by posterior Hox genes: A dose-dependent mechanism with potential evolutionary implications

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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

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Synpolydactyly in mice with a targeted deficiency in the HoxD complex

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The origin of vertebrate limbs

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Analysis of Hoxd-13 and Hoxd-11 misexpression in chick limb buds reveals that Hox genes affect both bone condensation and growth

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Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds.Preprint

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The vertebrate limb: A model system to study the Hox/hom gene network during development and evolution

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Function of posterior HoxD genes in the morphogenesis of the anal sphincter

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Two gene members of the murine HOX‐5 complex show regional and cell‐type specific expression in developing limbs and gonads.

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Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

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Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton

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The molecular basis of hypodactyly (Hd): a deletion in Hoxa13 leads to arrest of digital arch formation

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Hox-5.1 defines a homeobox-containing gene locus on mouse chromosome 2.

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The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning

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The Hox-4.8 gene is localized at the 5′ extremity of the Hox-4 complex and is expressed in the most posterior parts of the body during development

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Mutations in mouse Aristaless-like4 cause Strong’s luxoid polydactyly

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Homoeobox gene expression in mouse embryos varies with position by the primitive streak stage

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Targeted Mutations inHoxa-9andHoxb-9Reveal Synergistic Interactions

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Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain- of-function of posterior Hoxd genes

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Targeted disruption of Hoxd-10 affects mouse hindlimb development

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Axial skeleton homeosis and forelimb malformations in Hoxd-11 mutant mice.

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A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly

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The murine Hoxc cluster contains five neighboring AbdB-related Hox genes that show unique spatially coordinated expression in posterior embryonic subregions

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Genetic interactions of Hox genes in limb development: learning from compound mutants

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Hoxc-9 mutant mice show anterior transformation of the vertebrae and malformation of the sternum and ribs

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Control of Colinearity in AbdB Genes of the Mouse HoxD Complex

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Function of the Evx‐2 gene in the morphogenesis of vertebrate limbs.

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Developmental expression of the mouse Evx-2 gene: relationship with the evolution of the HOM/Hox complex

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Limb Evolution: Fish fins or tetrapod limbs — a simple twist of fate?

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Cellular analysis of limb development in the mouse mutant Hypodactyly

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Genetic and Physical Mapping of the Mouse Ulnaless Locus

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Modulating Hox gene functions during animal body patterning

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Cholesterol Modification of Sonic Hedgehog Is Required for Long-Range Signaling Activity and Effective Modulation of Signaling by Ptc1

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Gene Co-Option in Physiological and Morphological Evolution

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Wnt-14 Plays a Pivotal Role in Inducing Synovial Joint Formation in the Developing Appendicular Skeleton

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A Global Control Region Defines a Chromosomal Regulatory Landscape Containing the HoxD Cluster

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Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function.

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Patterning Mechanisms Controlling Vertebrate Limb Development

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Progression of Vertebrate Limb Development Through SHH-Mediated Counteraction of GLI3

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Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

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Hox Genes Regulate Digit Patterning by Controlling the Wavelength of a Turing-Type Mechanism

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Conserved regulation of proximodistal limb axis development by Meis1/Hth

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Requirement forPbx1in skeletal patterning and programming chondrocyte proliferation and differentiation

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Ephrin-B1 forward and reverse signaling are required during mouse developmentPreprint

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Sonic hedgehog Signaling from the Urethral Epithelium Controls External Genital Development

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Interdigital Regulation of Digit Identity and Homeotic Transformation by Modulated BMP Signaling

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Deciphering skeletal patterning: clues from the limb

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Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity

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Embryonic retinoic acid synthesis is required for forelimb growth and anteroposterior patterning in the mouse

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Cephalopod Hox genes and the origin of morphological novelties

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African lungfish genome sheds light on the vertebrate water-to-land transition

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Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling

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Biological Approaches to Bone Regeneration by Gene Therapy

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Developmental Patterning Genes and Their Conserved Functions: From Model Organisms to Humans

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Morphological affinities of the Australopithecus afarensis hand on the basis of manual proportions and relative thumb length

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Hox Control of Organ Size by Regulation of Morphogen Production and Mobility

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A latent capacity for evolutionary innovation through exaptation in metabolic systems

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Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh

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The Development of Synovial Joints

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The T-box transcription factor Tbx15 is required for skeletal development

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Biphasic Hoxd Gene Expression in Shark Paired Fins Reveals an Ancient Origin of the Distal Limb Domain

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The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning

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A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly

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MOLECULAR PALAEOBIOLOGY

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Hoxd13 Contribution to the Evolution of Vertebrate Appendages

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The Mouse Hoxd13spdh Mutation, a Polyalanine Expansion Similar to Human Type II Synpolydactyly (SPD), Disrupts the Function but Not the Expression of Other Hoxd Genes

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The developing limb and the control of the number of digits

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Crypto-rhombomeres of the mouse medulla oblongata, defined by molecular and morphological features

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Agenesis of the Scapula in Emx2 Homozygous Mutants

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Origin of evolutionary novelty: Examples from limbs

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Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability

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Synpolydactyly: clinical and molecular advances

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Patterns of correlation and covariation of anthropoid distal forelimb segments correspond to Hoxd expression territories

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Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

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Hoxd13 expression in the developing limbs of the short‐tailed fruit bat, Carollia perspicillata

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Bat accelerated regions identify a bat forelimb specific enhancer in the HoxD locus

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Ectopic expression of Hoxd10 in thoracic spinal segments induces motoneurons with a lumbosacral molecular profile and axon projections to the limb

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Molecular evidence of anteroposterior patterning in adult echinoderms

Formery, L., Peluso, P. S., Kohnle, I., Malnick, J., Thompson, J. R., Pitel, M. O., Uhlinger, K. R., Rokhsar, D. S., Rank, D. R., & Lowe, C. J. (2023) · Nature · doi:10.1038/s41586-023-06669-2 · Cited by 65

Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

Fukami, M., Kato, F., Tajima, T., Yokoya, S., & Ogata, T. (2005) · The American Journal of Human Genetics · doi:10.1086/499254 · Cited by 65

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

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Hoxd13 binds in vivo and regulates the expression of genes acting in key pathways for early limb and skeletal patterning

Salsi, V., Viganò, M., Cocchiarella, F., Mantovani, R., & Zappavigna, V. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.048 · Cited by 64

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

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Developmental basis of limb evolution

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Surveying phylogenetic footprints in large gene clusters: applications to Hox cluster duplications

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Developmental basis of limb length in rodents: evidence for multiple divisions of labor in mechanisms of endochondral bone growth

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Anteroposterior patterning in the limb and digit specification: Contribution of mouse genetics

Robert, B., & Lallemand, Y. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20890 · Cited by 59

Hoxd13 and Hoxa13 Directly Control the Expression of the EphA7 Ephrin Tyrosine Kinase Receptor in Developing Limbs

Salsi, V., & Zappavigna, V. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m510900200 · Cited by 59

Ectopic Meis1 expression in the mouse limb bud alters P-D patterning in a Pbx1-independent manner

Mercader, N., Selleri, L., Criado, L. M., Pallarés, P., Parras, C. M., Cleary, M. L., & Torres, M. (2009) · The International Journal of Developmental Biology · doi:10.1387/ijdb.072430nm · Cited by 56

Molecular Determinants of Bat Wing Development

Sears, K. E. (2007) · Cells Tissues Organs · doi:10.1159/000109959 · Cited by 55

Breakpoints around the HOXD cluster result in various limb malformations

Dlugaszewska, B., Silahtaroglu, A., Menzel, C., Kübart, S., Cohen, M., Mundlos, S., Tümer, Z., Kjaer, K., Friedrich, U., Ropers, H.-H., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033555 · Cited by 51

A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud

Hill, P., Götz, K., & Rüther, U. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.02.017 · Cited by 50

Fitness Trade-Offs Determine the Role of the Molecular Chaperonin GroEL in Buffering Mutations

Sabater‐Muñoz, B., Prats-Escriche, M., Montagud‐Martínez, R., López‐Cerdán, A., Toft, C., Aguilar-Rodríguez, J., Wagner, A., & Fares, M. A. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv144 · Cited by 50

Embryonic Development of Bone and Regulation of Intramembranous and Endochondral Bone Formation

Karaplis, A. C. (2008) · Elsevier eBooks · doi:10.1016/b978-0-12-373884-4.00025-2 · Cited by 48

Hoxd and Gli3 interactions modulate digit number in the amniote limb

Sheth, R., Bastida, M. F., & Ros, M. A. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2007.07.023 · Cited by 47

A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects

Spitz, F., Montavon, T., Monso‐Hinard, C., Morris, M. A., Ventruto, M., Antonarakis, S. E., Ventruto, V., & Duboule, D. (2002) · Genomics · doi:10.1006/geno.2002.6735 · Cited by 46

Hoxa2 downregulates Six2 in the neural crest-derived mesenchyme

Kutejova, E., Engist, B., Mallo, M., Kanzler, B., & Bobola, N. (2005) · Development · doi:10.1242/dev.01536 · Cited by 45

Mesenchymal patterning byHoxa2requires blocking Fgf-dependent activation ofPtx1

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Evolution and development of the primate limb skeleton

Chiu, C.-H., & Hamrick, M. W. (2002) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.2002 · Cited by 45

The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements

Albrecht, A. N., Schwabe, G. C., Stricker, S., Böddrich, A., Wanker, E. E., & Mundlos, S. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00639-6 · Cited by 43

Characterization of Xenopus digits and regenerated limbs of the froglet

Satoh, A., Endo, T., Abe, M., Yakushiji‐Kaminatsui, N., Ohgo, S., Tamura, K., & Ide, H. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20985 · Cited by 41

Transcriptional regulation of liver development

Duncan, S. A. (2000) · Developmental Dynamics · doi:10.1002/1097-0177(2000)9999:9999 · Cited by 99

DPY30 regulates pathways in cellular senescence through ID protein expression

Simboeck, E., Gutiérrez, A., Cozzuto, L., Beringer, M., Caizzi, L., Keyes, W. M., & Croce, L. D. (2013) · The EMBO Journal · doi:10.1038/emboj.2013.159 · Cited by 39

The molecular basis of Pallister Hall associated polydactyly

Hill, P., Wang, B., & Rüther, U. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm156 · Cited by 39

HOXD13 Binds DNA Replication Origins To Promote Origin Licensing and Is Inhibited by Geminin

Salsi, V., Ferrari, S., Ferraresi, R., Cossarizza, A., Grande, A., & Zappavigna, V. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00509-09 · Cited by 39

HOXB4 homeodomain protein is expressed in developing epidermis and skin disorders and modulates keratinocyte proliferation

Kömüves, L. G., Michael, E., Arbeit, J. M., Ma, X., Kwong, A., Stelnicki, E. J., Rozenfeld, S., Morimune, M., Yu, Q., & Largman, C. (2002) · Developmental Dynamics · doi:10.1002/dvdy.10085 · Cited by 39

Genetic interaction of Gli3 and Alx4 during limb development

Panman, L., Drenth, T., Tewelscher, P., Zúñiga, A., & Zeller, R. (2005) · The International Journal of Developmental Biology · doi:10.1387/ijdb.051984lp · Cited by 36

Mouse limbs expressing only the Gli3 repressor resemble those of Sonic hedgehog mutants

Cao, T., Wang, C., Yang, M., Wu, C., & Wang, B. (2013) · Developmental Biology · doi:10.1016/j.ydbio.2013.04.025 · Cited by 34

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome

Frisén, L., Lagerstedt‐Robinson, K., Tapper-Persson, M., Kockum, I. S., & Nordenskjöld, A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.4.e49 · Cited by 34

Tandem Repeat Polymorphisms

Hannan, A. J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_1 · Cited by 34

HOXB13 homeodomain protein is cytoplasmic throughout fetal skin development

Kömüves, L. G., Ma, X., Stelnicki, E. J., Rozenfeld, S., Oda, Y., & Largman, C. (2003) · Developmental Dynamics · doi:10.1002/dvdy.10290 · Cited by 33

Limb anomalies: Developmental and evolutionary aspects

Gurrieri, F., Kjaer, K. W., Sangiorgi, E., & Neri, G. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10981 · Cited by 33

Hox genes, digit identities and the theropod/bird transition

Galis, F. F., Kundrát, M., & Metz, J. A. J. (2005) · Journal of Experimental Zoology Part B Molecular and Developmental Evolution · doi:10.1002/jez.b.21042 · Cited by 33

Defining boundaries during joint cavity formation: going out on a limb

Lamb, K. J., Lewthwaite, J. C., Bastow, E. R., & Pitsillides, A. A. (2003) · International Journal of Experimental Pathology · doi:10.1046/j.1365-2613.2003.00338.x · Cited by 32

Clarifying tetrapod embryogenesis, a physicist's point of view

Fleury, V. (2009) · The European Physical Journal Applied Physics · doi:10.1051/epjap/2009033 · Cited by 31

A murine specific expansion of the Rhox cluster involved in embryonic stem cell biology is under natural selection

Jackson, M., Watt, A. J., Gautier, P. E., Gilchrist, D. S., Driehaus, J., Graham, G. J., Keebler, J., Prugnolle, F., Awadalla, P., & Forrester, L. M. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-212 · Cited by 31

Limb Development

Carlson, B. M. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-2794-0.00010-3 · Cited by 30

Hoxb1b controls oriented cell division, cell shape and microtubule dynamics in neural tube morphogenesis

Žigman, M., Laumann-Lipp, N., Titus, T. A., Postlethwait, J. H., & Moens, C. B. (2014) · Development · doi:10.1242/dev.098731 · Cited by 29

Transcriptional dysregulation in skeletal malformation syndromes

Hermanns, P., & Lee, B. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10231 · Cited by 29

Polyalanine Tract Disorders and Neurocognitive Phenotypes

Shoubridge, C., & Gécz, J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_12 · Cited by 28

Anatomy and muscle activity of the dorsal fins in bamboo sharks and spiny dogfish during turning maneuvers

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A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype

Fantini, S., Vaccari, G., Brison, N., Debeer, P., Tylżanowski, P., & Zappavigna, V. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn410 · Cited by 26

MetaHoxgene clusters

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HOXA13 and HOXD13 expression during development of the syndactylous digits in the marsupial Macropus eugenii

Chew, K. Y., Yu, H., Pask, A. J., Shaw, G., & Renfree, M. B. (2012) · BMC Developmental Biology · doi:10.1186/1471-213x-12-2 · Cited by 24

Transcriptomic analysis of bone and fibrous tissue morphogenesis during digit tip regeneration in the adult mouse

Qu, F., Palte, I. C., Gontarz, P. M., Zhang, B., & Guilak, F. (2020) · The FASEB Journal · doi:10.1096/fj.202000330r · Cited by 24

The Genetic Basis of Baculum Size and Shape Variation in Mice

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A hypermorphic mouse Gli3 allele results in a polydactylous limb phenotype

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The Abdominal-B-like gene expression during larval development of Nereis virens (polychaeta)

Kulakova, M. A., Kostyuchenko, R. P., Andreeva, T. F., & Dondua, A. K. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(02)00113-2 · Cited by 21

Setting and resetting of epigenetic marks in malignant transformation and development

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A PCR survey for posterior Hox genes in amphibians

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Hox genes and growth: early and late roles in limb bud morphogenesis

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A Regulatory Archipelago Controls Hox Genes Transcription in Digits

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Hox gene expression in teleost fins and the origin of vertebrate digits

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HoxGene Expression in Limbs: Colinearity by Opposite Regulatory Controls

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