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Leslie A. Lyons - One of the best experts on this subject based on the ideXlab platform.
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werewolf there wolf variants in hairless associated with hypotrichia and roaning in the lykoi Cat Breed
bioRxiv, 2020Co-Authors: Reuben M Buckley, Barbara Gandolfi, Marie Abitbol, Erica K Creighton, Connor A Pyne, Delia M Bouhan, Michelle L Leroy, David A Senter, Johnny R Gobble, Leslie A. LyonsAbstract:A variety of Cat Breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed Breed, the lykoi, was bred from Cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair Cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi Cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi Cats suggested two variants in the Cat homolog for Hairless (HR: lysine demethylase and nuclear receptor corepressor) as candidate causal variants. The lykoi Cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional Cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse Cats. The novel variants in HR for Cat hypotrichia can now be established between minor differences in the phenotypic presentations.
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Evidence of selection signatures that shape the Persian Cat Breed
Mammalian Genome, 2016Co-Authors: Francesca Bertolini, Bianca Haase, Barbara Gandolfi, Leslie A. Lyons, Max F. RothschildAbstract:The Persian Cat is mainly characterized by an extremely brachycephalic face as part of the standard body conformation. Despite the popularity, world-wide distribution, and economic importance of the Persian Cat as a fancy Breed, little is known about the genetics of their hallmark morphology, brachycephaly. Over 800 Cats from different Breeds including Persian, non-Persian Breeds (Abyssinian, Cornish Rex, Bengal, La Perm, Norwegian Forest, Maine Coon, Manx, Oriental, and Siamese), and Persian-derived Breeds (British Shorthair, Scottish Fold, Selkirk Rex) were genotyped with the Illumina 63 K feline DNA array. The experimental strategy was composed of three main steps: (i) the Persian dataset was screened for runs of homozygosity to find and select highly homozygous regions; (ii) selected Persian homozygous regions were evaluated for the difference of homozygosity between Persians and those considered non-Persian Breeds, and, (iii) the Persian homozygous regions most divergent from the non-Persian Breeds were investigated by haplotype analysis in the Persian-derived Breeds. Four regions with high homozygosity ( H > 0.7) were detected, each with an average length of 1 Mb. Three regions can be considered unique to the Persian Breed, with a less conservative haplotype pattern in the Persian-derived Breeds. Moreover, two genes, CHL1 and CNTN6 known to determine face shape modifiCation in humans, reside in one of the identified regions and therefore are positional candidates for the brachycephalic face in Persians. In total, the homozygous regions contained several neuronal genes that could be involved in the Persian Cat behavior and can provide new insights into Cat domestiCation.
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japanese bobtail vertebral morphology and genetic characterization of an established Cat Breed
Journal of Feline Medicine and Surgery, 2015Co-Authors: Rachel E Pollard, Amanda Koehne, Carlyn B Peterson, Leslie A. LyonsAbstract:Several Cat Breeds are defined by morphological variation of the tail. The Japanese Bobtail is a Breed that has been accepted for registration only within the past 50 years; however, the congenital kinked tail variants defining this Breed were documented in the Far East centuries ago and the Cats are considered 'good luck' in several Asian cultures. The recent discovery of the mutation for the tailless Manx phenotype has demonstrated that the Japanese Bobtail does not have a causative mutation in the same gene (T-Box). Here, a simple segregation analysis of Cats bred from a pedigreed Japanese Bobtail demonstrated a simple autosomal dominant mode of inheritance with variable expression of the tail length and kink placement. Unexpectedly, radiological examinations of the entire vertebral column of kink-tailed Cats indiCated variation from the normal vertebral feline formula (C7, T13, L7, S3, Cd20-24), including Cats with mostly one reduction of thoracic vertebrae (C7, T12, L7, S3), and an average of 15.8 caudal vertebrae. A few Cats had variation in the number of cervical vertebrae. Several transitional vertebrae and anomalous ribs were noted. One Cat had a bifid vertebra in the tail. Most Cats had hemivertebrae that were usually included in the tail kink, one of which was demonstrated by gross pathology and histopathology. The abnormal vertebral formula or the placement of the kink in the tail did not coincide with morbidity or mortality.
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who s behind that mask and cape the asian leopard Cat s agouti asip allele likely affects coat colour phenotype in the bengal Cat Breed
Animal Genetics, 2014Co-Authors: Liza Gershony, Brian W. Davis, Christopher R Helps, Maria Cecilia T. Penedo, William J Murphy, Leslie A. LyonsAbstract:Coat colours and patterns are highly variable in Cats and are determined mainly by several genes with Mendelian inheritance. A 2-bp deletion in agouti signalling protein (ASIP) is associated with melanism in domestic Cats. Bengal Cats are hybrids between domestic Cats and Asian leopard Cats (Prionailurus bengalensis), and the charcoal coat colouration/pattern in Bengals presents as a possible incomplete melanism. The complete coding region of ASIP was directly sequenced in Asian leopard, domestic and Bengal Cats. Twenty-seven variants were identified between domestic and leopard Cats and were investigated in Bengals and Savannahs, a hybrid with servals (Leptailurus serval). The leopard Cat ASIP haplotype was distinguished from domestic Cat by four synonymous and four non-synonymous exonic SNPs, as well as 19 intronic variants, including a 42-bp deletion in intron 4. Fifty-six of 64 reported charcoal Cats were compound heterozygotes at ASIP, with leopard Cat agouti (APbe) and domestic Cat non-agouti (a) haplotypes. Twenty-four Bengals had an additional unique haplotype (A2) for exon 2 that was not identified in leopard Cats, servals or jungle Cats (Felis chaus). The compound heterozygote state suggests the leopard Cat allele, in combination with the recessive non-agouti allele, influences Bengal markings, producing a darker, yet not completely melanistic coat. This is the first validation of a leopard Cat allele segregating in the Bengal Breed and likely affecting their overall pelage phenotype. Genetic testing services need to be aware of the possible segregation of wild felid alleles in all assays performed on hybrid Cats.
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first wnk4 hypokalemia animal model identified by genome wide association in burmese Cats
PLOS ONE, 2012Co-Authors: Barbara Gandolfi, Christopher R Helps, Alejandro Cortes, T J Gruffyddjones, R Malik, B R Jones, Eva M Prinzenberg, George Erhardt, Leslie A. LyonsAbstract:Burmese is an old and popular Cat Breed, however, several health concerns, such as hypokalemia and a craniofacial defect, are prevalent, endangering the general health of the Breed. Hypokalemia, a subnormal serum potassium ion concentration ([K(+)]), most often occurs as a secondary problem but can occur as a primary problem, such as hypokalaemic periodic paralysis in humans, and as feline hypokalaemic periodic polymyopathy primarily in Burmese. The most characteristic clinical sign of hypokalemia in Burmese is a skeletal muscle weakness that is frequently episodic in nature, either generalized, or sometimes localized to the cervical and thoracic limb girdle muscles. Burmese hypokalemia is suspected to be a single locus autosomal recessive trait. A genome wide case-control study using the illumina Infinium Feline 63K iSelect DNA array was performed using 35 cases and 25 controls from the Burmese Breed that identified a locus on chromosome E1 associated with hypokalemia. Within approximately 1.2 Mb of the highest associated SNP, two candidate genes were identified, KCNH4 and WNK4. Direct sequencing of the genes revealed a nonsense mutation, producing a premature stop codon within WNK4 (c.2899C>T), leading to a trunCated protein that lacks the C-terminal coiled-coil domain and the highly conserved Akt1/SGK phosphorylation site. All cases were homozygous for the mutation. Although the exact mechanism causing hypokalemia has not been determined, extrapolation from the homologous human and mouse genes suggests the mechanism may involve a potassium-losing nephropathy. A genetic test to screen for the genetic defect within the active Breeding population has been developed, which should lead to eradiCation of the mutation and improved general health within the Breed. Moreover, the identified mutation may help clarify the role of the protein in K⁺ regulation and the Cat represents the first animal model for WNK4-associated hypokalemia.
Barbara Gandolfi - One of the best experts on this subject based on the ideXlab platform.
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werewolf there wolf variants in hairless associated with hypotrichia and roaning in the lykoi Cat Breed
Genes, 2020Co-Authors: Reuben M Buckley, Barbara Gandolfi, Marie Abitbol, Erica K Creighton, Connor A Pyne, Delia M Bouhan, Michelle L Leroy, David A Senter, Johnny R GobbleAbstract:A variety of Cat Breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed Breed, the lykoi (a.k.a. werewolf Cat), was bred from Cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair Cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi Cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi Cats suggested two variants in the Cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi Cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional Cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse Cats. The novel variants in HR for Cat hypotrichia can now be established between minor differences in the phenotypic presentations.
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werewolf there wolf variants in hairless associated with hypotrichia and roaning in the lykoi Cat Breed
bioRxiv, 2020Co-Authors: Reuben M Buckley, Barbara Gandolfi, Marie Abitbol, Erica K Creighton, Connor A Pyne, Delia M Bouhan, Michelle L Leroy, David A Senter, Johnny R Gobble, Leslie A. LyonsAbstract:A variety of Cat Breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed Breed, the lykoi, was bred from Cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair Cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi Cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi Cats suggested two variants in the Cat homolog for Hairless (HR: lysine demethylase and nuclear receptor corepressor) as candidate causal variants. The lykoi Cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional Cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse Cats. The novel variants in HR for Cat hypotrichia can now be established between minor differences in the phenotypic presentations.
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Evidence of selection signatures that shape the Persian Cat Breed
Mammalian Genome, 2016Co-Authors: Francesca Bertolini, Bianca Haase, Barbara Gandolfi, Leslie A. Lyons, Max F. RothschildAbstract:The Persian Cat is mainly characterized by an extremely brachycephalic face as part of the standard body conformation. Despite the popularity, world-wide distribution, and economic importance of the Persian Cat as a fancy Breed, little is known about the genetics of their hallmark morphology, brachycephaly. Over 800 Cats from different Breeds including Persian, non-Persian Breeds (Abyssinian, Cornish Rex, Bengal, La Perm, Norwegian Forest, Maine Coon, Manx, Oriental, and Siamese), and Persian-derived Breeds (British Shorthair, Scottish Fold, Selkirk Rex) were genotyped with the Illumina 63 K feline DNA array. The experimental strategy was composed of three main steps: (i) the Persian dataset was screened for runs of homozygosity to find and select highly homozygous regions; (ii) selected Persian homozygous regions were evaluated for the difference of homozygosity between Persians and those considered non-Persian Breeds, and, (iii) the Persian homozygous regions most divergent from the non-Persian Breeds were investigated by haplotype analysis in the Persian-derived Breeds. Four regions with high homozygosity ( H > 0.7) were detected, each with an average length of 1 Mb. Three regions can be considered unique to the Persian Breed, with a less conservative haplotype pattern in the Persian-derived Breeds. Moreover, two genes, CHL1 and CNTN6 known to determine face shape modifiCation in humans, reside in one of the identified regions and therefore are positional candidates for the brachycephalic face in Persians. In total, the homozygous regions contained several neuronal genes that could be involved in the Persian Cat behavior and can provide new insights into Cat domestiCation.
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to the root of the curl a signature of a recent selective sweep identifies a mutation that defines the cornish rex Cat Breed
PLOS ONE, 2013Co-Authors: Barbara Gandolfi, Hasan Alhaddad, Verena K Affolter, Jeffrey A Brockman, Jens Haggstrom, Shannon E K Joslin, Amanda Koehne, James C Mullikin, Catherine A Outerbridge, Wesley C WarrenAbstract:The Cat (Felis silvestris Catus) shows significant variation in pelage, morphological, and behavioral phenotypes amongst its over 40 domestiCated Breeds. The majority of the Breed specific phenotypic presentations originated through artificial selection, especially on desired novel phenotypic characteristics that arose only a few hundred years ago. Variations in coat texture and color of hair often delineate Breeds amongst domestic animals. Although the genetic basis of several feline coat colors and hair lengths are characterized, less is known about the genes influencing variation in coat growth and texture, especially rexoid – curly coated types. Cornish Rex is a Cat Breed defined by a fixed recessive curly coat trait. Genome-wide analyses for selection (di, Tajima’s D and nucleotide diversity) were performed in the Cornish Rex Breed and in 11 phenotypically diverse Breeds and two random bred populations. Approximately 63K SNPs were used in the analysis that aimed to localize the locus controlling the rexoid hair texture. A region with a strong signature of recent selective sweep was identified in the Cornish Rex Breed on chromosome A1, as well as a consensus block of homozygosity that spans approximately 3 Mb. Inspection of the region for candidate genes led to the identifiCation of the lysophosphatidic acid receptor 6 (LPAR6). A 4 bp deletion in exon 5, c.250_253_delTTTG, which induces a premature stop codon in the receptor, was identified via Sanger sequencing. The mutation is fixed in Cornish Rex, absent in all straight haired Cats analyzed, and is also segregating in the German Rex Breed. LPAR6 encodes a G protein-coupled receptor essential for maintaining the structural integrity of the hair shaft; and has mutations resulting in a wooly hair phenotype in humans.
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first wnk4 hypokalemia animal model identified by genome wide association in burmese Cats
PLOS ONE, 2012Co-Authors: Barbara Gandolfi, Christopher R Helps, Alejandro Cortes, T J Gruffyddjones, R Malik, B R Jones, Eva M Prinzenberg, George Erhardt, Leslie A. LyonsAbstract:Burmese is an old and popular Cat Breed, however, several health concerns, such as hypokalemia and a craniofacial defect, are prevalent, endangering the general health of the Breed. Hypokalemia, a subnormal serum potassium ion concentration ([K(+)]), most often occurs as a secondary problem but can occur as a primary problem, such as hypokalaemic periodic paralysis in humans, and as feline hypokalaemic periodic polymyopathy primarily in Burmese. The most characteristic clinical sign of hypokalemia in Burmese is a skeletal muscle weakness that is frequently episodic in nature, either generalized, or sometimes localized to the cervical and thoracic limb girdle muscles. Burmese hypokalemia is suspected to be a single locus autosomal recessive trait. A genome wide case-control study using the illumina Infinium Feline 63K iSelect DNA array was performed using 35 cases and 25 controls from the Burmese Breed that identified a locus on chromosome E1 associated with hypokalemia. Within approximately 1.2 Mb of the highest associated SNP, two candidate genes were identified, KCNH4 and WNK4. Direct sequencing of the genes revealed a nonsense mutation, producing a premature stop codon within WNK4 (c.2899C>T), leading to a trunCated protein that lacks the C-terminal coiled-coil domain and the highly conserved Akt1/SGK phosphorylation site. All cases were homozygous for the mutation. Although the exact mechanism causing hypokalemia has not been determined, extrapolation from the homologous human and mouse genes suggests the mechanism may involve a potassium-losing nephropathy. A genetic test to screen for the genetic defect within the active Breeding population has been developed, which should lead to eradiCation of the mutation and improved general health within the Breed. Moreover, the identified mutation may help clarify the role of the protein in K⁺ regulation and the Cat represents the first animal model for WNK4-associated hypokalemia.
Max F. Rothschild - One of the best experts on this subject based on the ideXlab platform.
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Evidence of selection signatures that shape the Persian Cat Breed
Mammalian Genome, 2016Co-Authors: Francesca Bertolini, Bianca Haase, Barbara Gandolfi, Leslie A. Lyons, Max F. RothschildAbstract:The Persian Cat is mainly characterized by an extremely brachycephalic face as part of the standard body conformation. Despite the popularity, world-wide distribution, and economic importance of the Persian Cat as a fancy Breed, little is known about the genetics of their hallmark morphology, brachycephaly. Over 800 Cats from different Breeds including Persian, non-Persian Breeds (Abyssinian, Cornish Rex, Bengal, La Perm, Norwegian Forest, Maine Coon, Manx, Oriental, and Siamese), and Persian-derived Breeds (British Shorthair, Scottish Fold, Selkirk Rex) were genotyped with the Illumina 63 K feline DNA array. The experimental strategy was composed of three main steps: (i) the Persian dataset was screened for runs of homozygosity to find and select highly homozygous regions; (ii) selected Persian homozygous regions were evaluated for the difference of homozygosity between Persians and those considered non-Persian Breeds, and, (iii) the Persian homozygous regions most divergent from the non-Persian Breeds were investigated by haplotype analysis in the Persian-derived Breeds. Four regions with high homozygosity ( H > 0.7) were detected, each with an average length of 1 Mb. Three regions can be considered unique to the Persian Breed, with a less conservative haplotype pattern in the Persian-derived Breeds. Moreover, two genes, CHL1 and CNTN6 known to determine face shape modifiCation in humans, reside in one of the identified regions and therefore are positional candidates for the brachycephalic face in Persians. In total, the homozygous regions contained several neuronal genes that could be involved in the Persian Cat behavior and can provide new insights into Cat domestiCation.
Marie Abitbol - One of the best experts on this subject based on the ideXlab platform.
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werewolf there wolf variants in hairless associated with hypotrichia and roaning in the lykoi Cat Breed
Genes, 2020Co-Authors: Reuben M Buckley, Barbara Gandolfi, Marie Abitbol, Erica K Creighton, Connor A Pyne, Delia M Bouhan, Michelle L Leroy, David A Senter, Johnny R GobbleAbstract:A variety of Cat Breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed Breed, the lykoi (a.k.a. werewolf Cat), was bred from Cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair Cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi Cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi Cats suggested two variants in the Cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi Cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional Cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse Cats. The novel variants in HR for Cat hypotrichia can now be established between minor differences in the phenotypic presentations.
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werewolf there wolf variants in hairless associated with hypotrichia and roaning in the lykoi Cat Breed
bioRxiv, 2020Co-Authors: Reuben M Buckley, Barbara Gandolfi, Marie Abitbol, Erica K Creighton, Connor A Pyne, Delia M Bouhan, Michelle L Leroy, David A Senter, Johnny R Gobble, Leslie A. LyonsAbstract:A variety of Cat Breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed Breed, the lykoi, was bred from Cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair Cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi Cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi Cats suggested two variants in the Cat homolog for Hairless (HR: lysine demethylase and nuclear receptor corepressor) as candidate causal variants. The lykoi Cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional Cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse Cats. The novel variants in HR for Cat hypotrichia can now be established between minor differences in the phenotypic presentations.
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A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats
PloS one, 2015Co-Authors: Marie Abitbol, Philippe Bossé, Anne Thomas, Laurent TiretAbstract:An autosomal recessive syndrome characterized by congenital hypotrichosis and short life expectancy has been described in the Birman Cat Breed (Felis silvestris Catus). We hypothesized that a FOXN1 (forkhead box N1) loss-of-function allele, associated with the nude phenotype in humans, mice and rats, may account for the syndrome observed in Birman Cats. To the best of our knowledge, spontaneous mutations in FOXN1 have never been described in non-human, non-rodent mammalian species. We identified a recessive c.1030_1033delCTGT deletion in FOXN1 in Birman Cats. This 4-bp deletion was associated with the syndrome when present in two copies. Percentage of healthy carriers in our French panel of genotyped Birman Cats was estimated to be 3.2%. The deletion led to a frameshift and a premature stop codon at position 547 in the protein. In silico, the trunCated FOXN1 protein was predicted to lack the activation domain and critical parts of the forkhead DNA binding domain, both involved in the interaction between FOXN1 and its targets, a mandatory step to promote normal hair and thymic epithelial development. Our results enlarge the panel of recessive FOXN1 loss-of-function alleles described in mammals. A DNA test is available; it will help owners avoid matings at risk and should prevent the dissemination of this morbid mutation in domestic felines.
Hasan Alhaddad - One of the best experts on this subject based on the ideXlab platform.
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to the root of the curl a signature of a recent selective sweep identifies a mutation that defines the cornish rex Cat Breed
PLOS ONE, 2013Co-Authors: Barbara Gandolfi, Hasan Alhaddad, Verena K Affolter, Jeffrey A Brockman, Jens Haggstrom, Shannon E K Joslin, Amanda Koehne, James C Mullikin, Catherine A Outerbridge, Wesley C WarrenAbstract:The Cat (Felis silvestris Catus) shows significant variation in pelage, morphological, and behavioral phenotypes amongst its over 40 domestiCated Breeds. The majority of the Breed specific phenotypic presentations originated through artificial selection, especially on desired novel phenotypic characteristics that arose only a few hundred years ago. Variations in coat texture and color of hair often delineate Breeds amongst domestic animals. Although the genetic basis of several feline coat colors and hair lengths are characterized, less is known about the genes influencing variation in coat growth and texture, especially rexoid – curly coated types. Cornish Rex is a Cat Breed defined by a fixed recessive curly coat trait. Genome-wide analyses for selection (di, Tajima’s D and nucleotide diversity) were performed in the Cornish Rex Breed and in 11 phenotypically diverse Breeds and two random bred populations. Approximately 63K SNPs were used in the analysis that aimed to localize the locus controlling the rexoid hair texture. A region with a strong signature of recent selective sweep was identified in the Cornish Rex Breed on chromosome A1, as well as a consensus block of homozygosity that spans approximately 3 Mb. Inspection of the region for candidate genes led to the identifiCation of the lysophosphatidic acid receptor 6 (LPAR6). A 4 bp deletion in exon 5, c.250_253_delTTTG, which induces a premature stop codon in the receptor, was identified via Sanger sequencing. The mutation is fixed in Cornish Rex, absent in all straight haired Cats analyzed, and is also segregating in the German Rex Breed. LPAR6 encodes a G protein-coupled receptor essential for maintaining the structural integrity of the hair shaft; and has mutations resulting in a wooly hair phenotype in humans.
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selkirk rex morphological and genetic characterization of a new Cat Breed
Journal of Heredity, 2012Co-Authors: Serina Filler, Barbara Gandolfi, Leslie A. Lyons, Hasan Alhaddad, Jennifer D Kurushima, Alejandro Cortes, Christine Veit, G BremAbstract:Rexoid, curly hair mutations have been selected to develop new domestic Cat Breeds. The Selkirk Rex is the most recently established curly-coated Cat Breed originating from a spontaneous mutation that was discovered in the United States in 1987. Unlike the earlier and well-established Cornish and Devon Rex Breeds with curly-coat mutations, the Selkirk Rex mutation is suggested as autosomal dominant and has a different curl phenotype. This study provides a genetic analysis of the Selkirk Rex Breed. An informal segregation analysis of genetically proven matings supported an autosomal, incomplete dominant expression of the curly trait in the Selkirk Rex. Homozygous curl Cats can be distinguished from heterozygous Cats by head and body type, as well as the presentation of the hair curl. Bayesian clustering of short tandem repeat (STR) genotypes from 31 Cats that represent the future Breeding stock supported the close relationship of the Selkirk Rex to the British Shorthair, Scottish Fold, Persian, and Exotic Shorthair, suggesting the Selkirk as part of the Persian Breed family. The high heterozygosity of 0.630 and the low mean inBreeding coefficient of 0.057 suggest that Selkirk Rex has a diverse genetic foundation. A new locus for Selkirk autosomal dominant Rex, SADRE, is suggested for the curly trait.
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The naked truth: Sphynx and Devon Rex Cat Breed mutations in KRT71
Mammalian Genome, 2010Co-Authors: Barbara Gandolfi, Hasan Alhaddad, Catherine A Outerbridge, Leslie G. Beresford, Jeffrey A. Myers, Monica Pimentel, Jennifer C. Grahn, Robert A. Grahn, Leslie A. LyonsAbstract:Hair is a unique structure, characteristic of mammals, controlling body homeostasis, as well as cell and tissue integration. Previous studies in dog, mouse, and rat have identified polymorphisms in Keratin 71 ( KRT71) as responsible for the curly/wavy phenotypes. The coding sequence and the 3′ UTR of KRT71 were directly sequenced in randomly bred and pedigreed domestic Cats with different pelage mutations, including hairless varieties. A SNP altering a splice site was identified in the Sphynx Breed and suggested to be the hairless ( hr ) allele, and a complex sequence alteration, also causing a splice variation, was identified in the Devon Rex Breed and suggested to be the curly ( re ) allele. The polymorphisms were genotyped in approximately 200 Cats. All the Devon Rex were homozygous for the complex alterations and most of the Sphynx were either homozygous for the hr allele or compound heterozygotes with the Devon-associated re allele, suggesting that the phenotypes are a result of the identified SNPs. Two Sphynx carrying the proposed hr mutation did not carry the Devon-associated alteration. No other causative mutations for eight different rexoid and hairless Cat phenotypes were identified. The allelic series KRT71 ^ + > KRT71 ^ hr > KRT71 ^ re is suggested.